Canonical Allele Identifier: CA99071592
Gene: GC HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.71769258G>A
GRCh37 chr4:g.72634975G>A
gnomAD v2:
4:72634975 G / A
gnomAD v3:
4:71769258 G / A
gnomAD v4:
chr4-71769258-G-A
Joint Max Group AF 0.84661988 (NFE)
Genomes Max Group AF 0.84417736 (NFE)
Exomes Max Group AF 0.84637614 (NFE)
dbSNP:
222016
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71769258G>A , CM000666.2:g.71769258G>A GRCh38
NC_000004.11:g.72634975G>A , CM000666.1:g.72634975G>A GRCh37
NC_000004.10:g.72853839G>A NCBI36
NG_012837.2:g.41263C>T
NG_012837.3:g.41263C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.128+73C>T MANE Select ENSP00000273951.8:n.128+73C>T
ENST00000273951.12:c.128+73C>T ENSP00000273951.8:n.128+73C>T
ENST00000503472.5:n.70+73C>T
ENST00000504199.5:c.185+73C>T ENSP00000421725.1:n.185+73C>T
ENST00000505234.1:n.272+73C>T
ENST00000506245.1:c.128+73C>T ENSP00000426718.1:n.128+73C>T
ENST00000509740.5:c.128+73C>T ENSP00000422664.1:n.128+73C>T
ENST00000513476.5:c.128+73C>T ENSP00000426683.1:n.128+73C>T
NM_000583.3:c.128+73C>T NP_000574.2:n.128+73C>T
NM_001204306.1:c.128+73C>T NP_001191235.1:n.128+73C>T
NM_001204307.1:c.185+73C>T NP_001191236.1:n.185+73C>T
XM_006714177.2:c.128+73C>T XP_006714240.1:n.128+73C>T
XM_006714177.3:c.128+73C>T XP_006714240.1:n.128+73C>T
NM_000583.4:c.128+73C>T MANE Select NP_000574.2:n.128+73C>T
Search 100 bp 5'
Search 100 bp 3'