Canonical Allele Identifier: CA1064002725
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs1742803624
gnomAD v3: 4-71785166-C-T
gnomAD v4: 4-71785166-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71785166C>T , CM000666.2:g.71785166C>T GRCh38
NC_000004.11:g.72650883C>T , CM000666.1:g.72650883C>T GRCh37
NC_000004.10:g.72869747C>T NCBI36
NG_012837.2:g.25355G>A
NG_012837.3:g.25355G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000504199.5:c.22-1112G>A ENSP00000421725.1:n.22-1112G>A
ENST00000506245.1:c.-37+754G>A ENSP00000426718.1:n.-37+754G>A
NM_001204306.1:c.-36-1112G>A NP_001191235.1:n.-36-1112G>A
NM_001204307.1:c.22-1112G>A NP_001191236.1:n.22-1112G>A
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