Canonical Allele Identifier: CA10616291
Gene: GGCX HGNC NCBI

Linked Data

ClinVar Variation Id: 337185
ClinVar RCV Id: RCV000369660
dbSNP Id: rs12473819
gnomAD v2: 2-85773061-A-G
gnomAD v3: 2-85545938-A-G
gnomAD v4: 2-85545938-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85545938A>G , CM000664.2:g.85545938A>G GRCh38
NC_000002.11:g.85773061A>G , CM000664.1:g.85773061A>G GRCh37
NC_000002.10:g.85626572A>G NCBI36
NG_011811.2:g.20597T>C
NG_029183.1:g.11961A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000233838.9:c.*3996T>C MANE Select ENSP00000233838.3:n.*3996T>C
ENST00000233838.8:c.*3996T>C ENSP00000233838.3:n.*3996T>C
NM_000821.5:c.*3996T>C NP_000812.2:n.*3996T>C
NM_000821.6:c.*3996T>C NP_000812.2:n.*3996T>C
NM_001142269.2:c.*3996T>C NP_001135741.1:n.*3996T>C
NM_001142269.3:c.*3996T>C NP_001135741.1:n.*3996T>C
NM_000821.7:c.*3996T>C MANE Select NP_000812.2:n.*3996T>C
NM_001142269.4:c.*3996T>C NP_001135741.1:n.*3996T>C