Canonical Allele Identifier: CA1467349646
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs1741215224
gnomAD v3: 4-71742480-C-G
gnomAD v4: 4-71742480-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71742480C>G , CM000666.2:g.71742480C>G GRCh38
NC_000004.11:g.72608197C>G , CM000666.1:g.72608197C>G GRCh37
NC_000004.10:g.72827061C>G NCBI36
NG_012837.2:g.68041G>C
NG_012837.3:g.68041G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.*26-610G>C MANE Select ENSP00000273951.8:n.*26-610G>C
ENST00000273951.12:c.*26-610G>C ENSP00000273951.8:n.*26-610G>C
ENST00000503364.5:n.124-610G>C
ENST00000503472.5:n.1335-610G>C
ENST00000504199.5:c.*26-610G>C ENSP00000421725.1:n.*26-610G>C
ENST00000509740.5:c.*274-610G>C ENSP00000422664.1:n.*274-610G>C
ENST00000513476.5:c.1396-610G>C ENSP00000426683.1:n.1396-610G>C
NM_000583.3:c.*26-610G>C NP_000574.2:n.*26-610G>C
NM_001204306.1:c.*26-610G>C NP_001191235.1:n.*26-610G>C
NM_001204307.1:c.*26-610G>C NP_001191236.1:n.*26-610G>C
XM_006714177.2:c.*40-610G>C XP_006714240.1:n.*40-610G>C
XM_006714177.3:c.*40-610G>C XP_006714240.1:n.*40-610G>C
NM_000583.4:c.*26-610G>C MANE Select NP_000574.2:n.*26-610G>C