Canonical Allele Identifier: CA2955872
Gene: GC HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.71784057G>A
GRCh37 chr4:g.72649774G>A
gnomAD v2:
4:72649774 G / A
gnomAD v3:
4:71784057 G / A
gnomAD v4:
chr4-71784057-G-A
Joint Max Group AF 0.34782017 (EAS)
Genomes Max Group AF 0.37207107 (EAS)
Exomes Max Group AF 0.34315365 (EAS)
dbSNP:
3733359
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71784057G>A , CM000666.2:g.71784057G>A GRCh38
NC_000004.11:g.72649774G>A , CM000666.1:g.72649774G>A GRCh37
NC_000004.10:g.72868638G>A NCBI36
NG_012837.2:g.26464C>T
NG_012837.3:g.26464C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.-39C>T MANE Select ENSP00000273951.8:n.-39C>T
ENST00000273951.12:c.-39C>T ENSP00000273951.8:n.-39C>T
ENST00000504199.5:c.22-3C>T ENSP00000421725.1:n.22-3C>T
ENST00000506245.1:c.-36-3C>T ENSP00000426718.1:n.-36-3C>T
ENST00000509740.5:c.-39C>T ENSP00000422664.1:n.-39C>T
NM_000583.3:c.-39C>T NP_000574.2:n.-39C>T
NM_001204306.1:c.-36-3C>T NP_001191235.1:n.-36-3C>T
NM_001204307.1:c.22-3C>T NP_001191236.1:n.22-3C>T
XM_006714177.2:c.-39C>T XP_006714240.1:n.-39C>T
XM_006714177.3:c.-39C>T XP_006714240.1:n.-39C>T
NM_000583.4:c.-39C>T MANE Select NP_000574.2:n.-39C>T
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