Canonical Allele Identifier: CA281483

Gene: ELN

Linked Data

• ClinVar Variation Id: 177951
• ClinVar RCV Id: RCV000154614
• dbSNP Id: rs727504419
• MyVariant Identifiers: chr7:g.73466171T>C (hg19) ; chr7:g.74051841T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74051841T>C , CM000669.2:g.74051841T>C	GRCh38
NC_000007.13:g.73466171T>C , CM000669.1:g.73466171T>C	GRCh37
NC_000007.12:g.73104107T>C	NCBI36
NG_009261.1:g.28745T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.889+2T>C	ENSP00000510104.1:n.889+2T>C
ENST00000252034.12:c.889+2T>C MANE Select	ENSP00000252034.7:n.889+2T>C
ENST00000252034.11:c.889+2T>C	ENSP00000252034.7:n.889+2T>C
ENST00000320399.10:c.889+2T>C	ENSP00000313565.6:n.889+2T>C
ENST00000320492.11:c.781+2T>C	ENSP00000315607.7:n.781+2T>C
ENST00000357036.9:c.904+2T>C	ENSP00000349540.5:n.904+2T>C
ENST00000358929.8:c.889+2T>C	ENSP00000351807.5:n.889+2T>C
ENST00000380553.8:c.538+2T>C	ENSP00000369926.4:n.538+2T>C
ENST00000380562.8:c.889+2T>C	ENSP00000369936.4:n.889+2T>C
ENST00000380575.8:c.859+2T>C	ENSP00000369949.4:n.859+2T>C
ENST00000380576.9:c.889+2T>C	ENSP00000369950.5:n.889+2T>C
ENST00000380584.8:c.847+2T>C	ENSP00000369958.4:n.847+2T>C
ENST00000414324.5:c.874+2T>C	ENSP00000392575.1:n.874+2T>C
ENST00000429192.5:c.904+2T>C	ENSP00000391129.1:n.904+2T>C
ENST00000438880.5:c.472+2T>C	ENSP00000389206.1:n.472+2T>C
ENST00000438906.5:c.823+2T>C	ENSP00000406949.1:n.823+2T>C
ENST00000445912.5:c.889+2T>C	ENSP00000389857.1:n.889+2T>C
ENST00000458204.5:c.859+2T>C	ENSP00000403162.1:n.859+2T>C
ENST00000493839.1:n.357T>C
ENST00000621115.4:c.757+2T>C	ENSP00000480955.1:n.757+2T>C
NM_000501.3:c.889+2T>C	NP_000492.2:n.889+2T>C
NM_001081752.2:c.859+2T>C	NP_001075221.1:n.859+2T>C
NM_001081753.2:c.904+2T>C	NP_001075222.1:n.904+2T>C
NM_001081754.2:c.904+2T>C	NP_001075223.1:n.904+2T>C
NM_001081755.2:c.889+2T>C	NP_001075224.1:n.889+2T>C
NM_001278912.1:c.889+2T>C	NP_001265841.1:n.889+2T>C
NM_001278913.1:c.781+2T>C	NP_001265842.1:n.781+2T>C
NM_001278914.1:c.874+2T>C	NP_001265843.1:n.874+2T>C
NM_001278915.1:c.889+2T>C	NP_001265844.1:n.889+2T>C
NM_001278916.1:c.847+2T>C	NP_001265845.1:n.847+2T>C
NM_001278917.1:c.859+2T>C	NP_001265846.1:n.859+2T>C
NM_001278918.1:c.757+2T>C	NP_001265847.1:n.757+2T>C
NM_001278939.1:c.889+2T>C	NP_001265868.1:n.889+2T>C
XM_005250187.1:c.853+2T>C	XP_005250244.1:n.853+2T>C
XM_005250188.1:c.847+2T>C	XP_005250245.1:n.847+2T>C
XM_011515868.1:c.904+2T>C	XP_011514170.1:n.904+2T>C
XM_011515869.1:c.874+2T>C	XP_011514171.1:n.874+2T>C
XM_011515870.1:c.868+2T>C	XP_011514172.1:n.868+2T>C
XM_011515871.1:c.862+2T>C	XP_011514173.1:n.862+2T>C
XM_011515872.1:c.904+2T>C	XP_011514174.1:n.904+2T>C
XM_011515873.1:c.904+2T>C	XP_011514175.1:n.904+2T>C
XM_011515874.1:c.838+2T>C	XP_011514176.1:n.838+2T>C
XM_011515875.1:c.823+2T>C	XP_011514177.1:n.823+2T>C
XM_011515876.1:c.904+2T>C	XP_011514178.1:n.904+2T>C
XM_011515877.1:c.904+2T>C	XP_011514179.1:n.904+2T>C
XM_005250187.2:c.853+2T>C	XP_005250244.1:n.853+2T>C
XM_005250188.2:c.847+2T>C	XP_005250245.1:n.847+2T>C
XM_011515868.2:c.904+2T>C	XP_011514170.1:n.904+2T>C
XM_011515871.2:c.862+2T>C	XP_011514173.1:n.862+2T>C
XM_011515872.2:c.904+2T>C	XP_011514174.1:n.904+2T>C
XM_011515873.2:c.904+2T>C	XP_011514175.1:n.904+2T>C
XM_011515875.2:c.823+2T>C	XP_011514177.1:n.823+2T>C
XM_011515876.2:c.904+2T>C	XP_011514178.1:n.904+2T>C
XM_011515877.2:c.904+2T>C	XP_011514179.1:n.904+2T>C
XM_017011813.1:c.817+2T>C	XP_016867302.1:n.817+2T>C
XM_017011814.2:c.862+2T>C	XP_016867303.1:n.862+2T>C
NM_000501.4:c.889+2T>C MANE Select	NP_000492.2:n.889+2T>C
NM_001081752.3:c.859+2T>C	NP_001075221.1:n.859+2T>C
NM_001081753.3:c.904+2T>C	NP_001075222.1:n.904+2T>C
NM_001081754.3:c.904+2T>C	NP_001075223.1:n.904+2T>C
NM_001081755.3:c.889+2T>C	NP_001075224.1:n.889+2T>C
NM_001278912.2:c.889+2T>C	NP_001265841.1:n.889+2T>C
NM_001278913.2:c.781+2T>C	NP_001265842.1:n.781+2T>C
NM_001278914.2:c.874+2T>C	NP_001265843.1:n.874+2T>C
NM_001278915.2:c.889+2T>C	NP_001265844.1:n.889+2T>C
NM_001278916.2:c.847+2T>C	NP_001265845.1:n.847+2T>C
NM_001278917.2:c.859+2T>C	NP_001265846.1:n.859+2T>C
NM_001278918.2:c.757+2T>C	NP_001265847.1:n.757+2T>C
NM_001278939.2:c.889+2T>C	NP_001265868.1:n.889+2T>C