Canonical Allele Identifier: CA281109

Gene: ELN

Linked Data

• ClinVar Variation Id: 43586
• ClinVar RCV Id: RCV000199556 ; RCV000036528 ; RCV000624154
• dbSNP Id: rs397516433
• MyVariant Identifiers: chr7:g.73466077C>G (hg19) ; chr7:g.74051747C>G (hg38)
• PubMed: PMID:8132745 ; PMID:9215670 ; PMID:10190324 ; PMID:10942104 ; PMID:11175284 ; PMID:15955094 ; PMID:17037986 ; PMID:18348261 ; PMID:19194475 ; PMID:21309044 ; PMID:23442826 ; PMID:27866049

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74051747C>G , CM000669.2:g.74051747C>G	GRCh38
NC_000007.13:g.73466077C>G , CM000669.1:g.73466077C>G	GRCh37
NC_000007.12:g.73104013C>G	NCBI36
NG_009261.1:g.28651C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.800-3C>G	ENSP00000510104.1:n.800-3C>G
ENST00000252034.12:c.800-3C>G MANE Select	ENSP00000252034.7:n.800-3C>G
ENST00000252034.11:c.800-3C>G	ENSP00000252034.7:n.800-3C>G
ENST00000320399.10:c.800-3C>G	ENSP00000313565.6:n.800-3C>G
ENST00000320492.11:c.692-3C>G	ENSP00000315607.7:n.692-3C>G
ENST00000357036.9:c.815-3C>G	ENSP00000349540.5:n.815-3C>G
ENST00000358929.8:c.800-3C>G	ENSP00000351807.5:n.800-3C>G
ENST00000380553.8:c.449-3C>G	ENSP00000369926.4:n.449-3C>G
ENST00000380562.8:c.800-3C>G	ENSP00000369936.4:n.800-3C>G
ENST00000380575.8:c.770-3C>G	ENSP00000369949.4:n.770-3C>G
ENST00000380576.9:c.800-3C>G	ENSP00000369950.5:n.800-3C>G
ENST00000380584.8:c.758-3C>G	ENSP00000369958.4:n.758-3C>G
ENST00000414324.5:c.785-3C>G	ENSP00000392575.1:n.785-3C>G
ENST00000429192.5:c.815-3C>G	ENSP00000391129.1:n.815-3C>G
ENST00000438880.5:c.383-3C>G	ENSP00000389206.1:n.383-3C>G
ENST00000438906.5:c.734-3C>G	ENSP00000406949.1:n.734-3C>G
ENST00000445912.5:c.800-3C>G	ENSP00000389857.1:n.800-3C>G
ENST00000458204.5:c.770-3C>G	ENSP00000403162.1:n.770-3C>G
ENST00000493839.1:n.266-3C>G
ENST00000621115.4:c.668-3C>G	ENSP00000480955.1:n.668-3C>G
NM_000501.3:c.800-3C>G	NP_000492.2:n.800-3C>G
NM_001081752.2:c.770-3C>G	NP_001075221.1:n.770-3C>G
NM_001081753.2:c.815-3C>G	NP_001075222.1:n.815-3C>G
NM_001081754.2:c.815-3C>G	NP_001075223.1:n.815-3C>G
NM_001081755.2:c.800-3C>G	NP_001075224.1:n.800-3C>G
NM_001278912.1:c.800-3C>G	NP_001265841.1:n.800-3C>G
NM_001278913.1:c.692-3C>G	NP_001265842.1:n.692-3C>G
NM_001278914.1:c.785-3C>G	NP_001265843.1:n.785-3C>G
NM_001278915.1:c.800-3C>G	NP_001265844.1:n.800-3C>G
NM_001278916.1:c.758-3C>G	NP_001265845.1:n.758-3C>G
NM_001278917.1:c.770-3C>G	NP_001265846.1:n.770-3C>G
NM_001278918.1:c.668-3C>G	NP_001265847.1:n.668-3C>G
NM_001278939.1:c.800-3C>G	NP_001265868.1:n.800-3C>G
XM_005250187.1:c.764-3C>G	XP_005250244.1:n.764-3C>G
XM_005250188.1:c.758-3C>G	XP_005250245.1:n.758-3C>G
XM_011515868.1:c.815-3C>G	XP_011514170.1:n.815-3C>G
XM_011515869.1:c.785-3C>G	XP_011514171.1:n.785-3C>G
XM_011515870.1:c.779-3C>G	XP_011514172.1:n.779-3C>G
XM_011515871.1:c.773-3C>G	XP_011514173.1:n.773-3C>G
XM_011515872.1:c.815-3C>G	XP_011514174.1:n.815-3C>G
XM_011515873.1:c.815-3C>G	XP_011514175.1:n.815-3C>G
XM_011515874.1:c.749-3C>G	XP_011514176.1:n.749-3C>G
XM_011515875.1:c.734-3C>G	XP_011514177.1:n.734-3C>G
XM_011515876.1:c.815-3C>G	XP_011514178.1:n.815-3C>G
XM_011515877.1:c.815-3C>G	XP_011514179.1:n.815-3C>G
XM_005250187.2:c.764-3C>G	XP_005250244.1:n.764-3C>G
XM_005250188.2:c.758-3C>G	XP_005250245.1:n.758-3C>G
XM_011515868.2:c.815-3C>G	XP_011514170.1:n.815-3C>G
XM_011515871.2:c.773-3C>G	XP_011514173.1:n.773-3C>G
XM_011515872.2:c.815-3C>G	XP_011514174.1:n.815-3C>G
XM_011515873.2:c.815-3C>G	XP_011514175.1:n.815-3C>G
XM_011515875.2:c.734-3C>G	XP_011514177.1:n.734-3C>G
XM_011515876.2:c.815-3C>G	XP_011514178.1:n.815-3C>G
XM_011515877.2:c.815-3C>G	XP_011514179.1:n.815-3C>G
XM_017011813.1:c.728-3C>G	XP_016867302.1:n.728-3C>G
XM_017011814.2:c.773-3C>G	XP_016867303.1:n.773-3C>G
NM_000501.4:c.800-3C>G MANE Select	NP_000492.2:n.800-3C>G
NM_001081752.3:c.770-3C>G	NP_001075221.1:n.770-3C>G
NM_001081753.3:c.815-3C>G	NP_001075222.1:n.815-3C>G
NM_001081754.3:c.815-3C>G	NP_001075223.1:n.815-3C>G
NM_001081755.3:c.800-3C>G	NP_001075224.1:n.800-3C>G
NM_001278912.2:c.800-3C>G	NP_001265841.1:n.800-3C>G
NM_001278913.2:c.692-3C>G	NP_001265842.1:n.692-3C>G
NM_001278914.2:c.785-3C>G	NP_001265843.1:n.785-3C>G
NM_001278915.2:c.800-3C>G	NP_001265844.1:n.800-3C>G
NM_001278916.2:c.758-3C>G	NP_001265845.1:n.758-3C>G
NM_001278917.2:c.770-3C>G	NP_001265846.1:n.770-3C>G
NM_001278918.2:c.668-3C>G	NP_001265847.1:n.668-3C>G
NM_001278939.2:c.800-3C>G	NP_001265868.1:n.800-3C>G