Canonical Allele Identifier: CA99058363
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs568024841
gnomAD v2: 4-72609360-A-G
gnomAD v3: 4-71743643-A-G
gnomAD v4: 4-71743643-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71743643A>G , CM000666.2:g.71743643A>G GRCh38
NC_000004.11:g.72609360A>G , CM000666.1:g.72609360A>G GRCh37
NC_000004.10:g.72828224A>G NCBI36
NG_012837.2:g.66878T>C
NG_012837.3:g.66878T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000273951.13:c.*26-1773T>C MANE Select ENSP00000273951.8:n.*26-1773T>C
ENST00000273951.12:c.*26-1773T>C ENSP00000273951.8:n.*26-1773T>C
ENST00000503364.5:n.124-1773T>C
ENST00000503472.5:n.1335-1773T>C
ENST00000504199.5:c.*26-1773T>C ENSP00000421725.1:n.*26-1773T>C
ENST00000509740.5:c.*274-1773T>C ENSP00000422664.1:n.*274-1773T>C
ENST00000513476.5:c.1396-1773T>C ENSP00000426683.1:n.1396-1773T>C
NM_000583.3:c.*26-1773T>C NP_000574.2:n.*26-1773T>C
NM_001204306.1:c.*26-1773T>C NP_001191235.1:n.*26-1773T>C
NM_001204307.1:c.*26-1773T>C NP_001191236.1:n.*26-1773T>C
XM_006714177.2:c.*40-1773T>C XP_006714240.1:n.*40-1773T>C
XM_006714177.3:c.*40-1773T>C XP_006714240.1:n.*40-1773T>C
NM_000583.4:c.*26-1773T>C MANE Select NP_000574.2:n.*26-1773T>C