Canonical Allele Identifier: CA367881956

Gene: ELN

Linked Data

• ClinVar Variation Id: 2713291
• ClinVar RCV Id: RCV003518218
• dbSNP Id: rs137854452
• gnomAD v4: 7-74056680-C-G
• MyVariant Identifiers: chr7:g.73471010C>G (hg19) ; chr7:g.74056680C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74056680C>G , CM000669.2:g.74056680C>G	GRCh38
NC_000007.13:g.73471010C>G , CM000669.1:g.73471010C>G	GRCh37
NC_000007.12:g.73108946C>G	NCBI36
NG_009261.1:g.33584C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000692049.1:c.1324C>G	ENSP00000510104.1:p.Gln442Glu
ENST00000252034.12:c.1324C>G MANE Select	ENSP00000252034.7:p.Gln442Glu
ENST00000252034.11:c.1324C>G	ENSP00000252034.7:p.Gln442Glu
ENST00000320399.10:c.1324C>G	ENSP00000313565.6:p.Gln442Glu
ENST00000320492.11:c.1138C>G	ENSP00000315607.7:p.Gln380Glu
ENST00000357036.9:c.1339C>G	ENSP00000349540.5:p.Gln447Glu
ENST00000358929.8:c.1324C>G	ENSP00000351807.5:p.Gln442Glu
ENST00000380553.8:c.973C>G	ENSP00000369926.4:p.Gln325Glu
ENST00000380562.8:c.1324C>G	ENSP00000369936.4:p.Gln442Glu
ENST00000380575.8:c.1294C>G	ENSP00000369949.4:p.Gln432Glu
ENST00000380576.9:c.1324C>G	ENSP00000369950.5:p.Gln442Glu
ENST00000380584.8:c.1282C>G	ENSP00000369958.4:p.Gln428Glu
ENST00000414324.5:c.1309C>G	ENSP00000392575.1:p.Gln437Glu
ENST00000429192.5:c.1339C>G	ENSP00000391129.1:p.Gln447Glu
ENST00000445912.5:c.1324C>G	ENSP00000389857.1:p.Gln442Glu
ENST00000458204.5:c.1294C>G	ENSP00000403162.1:p.Gln432Glu
ENST00000621115.4:c.1114C>G	ENSP00000480955.1:p.Gln372Glu
NM_000501.3:c.1324C>G	NP_000492.2:p.Gln442Glu
NM_001081752.2:c.1294C>G	NP_001075221.1:p.Gln432Glu
NM_001081753.2:c.1339C>G	NP_001075222.1:p.Gln447Glu
NM_001081754.2:c.1339C>G	NP_001075223.1:p.Gln447Glu
NM_001081755.2:c.1324C>G	NP_001075224.1:p.Gln442Glu
NM_001278912.1:c.1324C>G	NP_001265841.1:p.Gln442Glu
NM_001278913.1:c.1138C>G	NP_001265842.1:p.Gln380Glu
NM_001278914.1:c.1309C>G	NP_001265843.1:p.Gln437Glu
NM_001278915.1:c.1324C>G	NP_001265844.1:p.Gln442Glu
NM_001278916.1:c.1282C>G	NP_001265845.1:p.Gln428Glu
NM_001278917.1:c.1294C>G	NP_001265846.1:p.Gln432Glu
NM_001278918.1:c.1114C>G	NP_001265847.1:p.Gln372Glu
NM_001278939.1:c.1324C>G	NP_001265868.1:p.Gln442Glu
XM_005250187.1:c.1288C>G	XP_005250244.1:p.Gln430Glu
XM_005250188.1:c.1282C>G	XP_005250245.1:p.Gln428Glu
XM_011515868.1:c.1339C>G	XP_011514170.1:p.Gln447Glu
XM_011515869.1:c.1309C>G	XP_011514171.1:p.Gln437Glu
XM_011515870.1:c.1303C>G	XP_011514172.1:p.Gln435Glu
XM_011515871.1:c.1297C>G	XP_011514173.1:p.Gln433Glu
XM_011515872.1:c.1285C>G	XP_011514174.1:p.Gln429Glu
XM_011515873.1:c.1339C>G	XP_011514175.1:p.Gln447Glu
XM_011515874.1:c.1273C>G	XP_011514176.1:p.Gln425Glu
XM_011515875.1:c.1258C>G	XP_011514177.1:p.Gln420Glu
XM_011515876.1:c.1339C>G	XP_011514178.1:p.Gln447Glu
XM_011515877.1:c.1285C>G	XP_011514179.1:p.Gln429Glu
XM_005250187.2:c.1288C>G	XP_005250244.1:p.Gln430Glu
XM_005250188.2:c.1282C>G	XP_005250245.1:p.Gln428Glu
XM_011515868.2:c.1339C>G	XP_011514170.1:p.Gln447Glu
XM_011515871.2:c.1297C>G	XP_011514173.1:p.Gln433Glu
XM_011515872.2:c.1285C>G	XP_011514174.1:p.Gln429Glu
XM_011515873.2:c.1339C>G	XP_011514175.1:p.Gln447Glu
XM_011515875.2:c.1258C>G	XP_011514177.1:p.Gln420Glu
XM_011515876.2:c.1339C>G	XP_011514178.1:p.Gln447Glu
XM_011515877.2:c.1285C>G	XP_011514179.1:p.Gln429Glu
XM_017011813.1:c.1252C>G	XP_016867302.1:p.Gln418Glu
XM_017011814.2:c.1297C>G	XP_016867303.1:p.Gln433Glu
NM_000501.4:c.1324C>G MANE Select	NP_000492.2:p.Gln442Glu
NM_001081752.3:c.1294C>G	NP_001075221.1:p.Gln432Glu
NM_001081753.3:c.1339C>G	NP_001075222.1:p.Gln447Glu
NM_001081754.3:c.1339C>G	NP_001075223.1:p.Gln447Glu
NM_001081755.3:c.1324C>G	NP_001075224.1:p.Gln442Glu
NM_001278912.2:c.1324C>G	NP_001265841.1:p.Gln442Glu
NM_001278913.2:c.1138C>G	NP_001265842.1:p.Gln380Glu
NM_001278914.2:c.1309C>G	NP_001265843.1:p.Gln437Glu
NM_001278915.2:c.1324C>G	NP_001265844.1:p.Gln442Glu
NM_001278916.2:c.1282C>G	NP_001265845.1:p.Gln428Glu
NM_001278917.2:c.1294C>G	NP_001265846.1:p.Gln432Glu
NM_001278918.2:c.1114C>G	NP_001265847.1:p.Gln372Glu
NM_001278939.2:c.1324C>G	NP_001265868.1:p.Gln442Glu