Canonical Allele Identifier: CA10614026
Gene: GGCX HGNC NCBI

Linked Data

ClinVar Variation Id: 337201
ClinVar RCV Id: RCV000315048
dbSNP Id: rs72940569
gnomAD v2: 2-85773626-G-A
gnomAD v3: 2-85546503-G-A
gnomAD v4: 2-85546503-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85546503G>A , CM000664.2:g.85546503G>A GRCh38
NC_000002.11:g.85773626G>A , CM000664.1:g.85773626G>A GRCh37
NC_000002.10:g.85627137G>A NCBI36
NG_011811.2:g.20032C>T
NG_029183.1:g.12526G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000233838.9:c.*3431C>T MANE Select ENSP00000233838.3:n.*3431C>T
ENST00000233838.8:c.*3431C>T ENSP00000233838.3:n.*3431C>T
NM_000821.5:c.*3431C>T NP_000812.2:n.*3431C>T
NM_000821.6:c.*3431C>T NP_000812.2:n.*3431C>T
NM_001142269.2:c.*3431C>T NP_001135741.1:n.*3431C>T
NM_001142269.3:c.*3431C>T NP_001135741.1:n.*3431C>T
NM_000821.7:c.*3431C>T MANE Select NP_000812.2:n.*3431C>T
NM_001142269.4:c.*3431C>T NP_001135741.1:n.*3431C>T