Canonical Allele Identifier: CA10614471

Gene: GGCX

Linked Data

• ClinVar Variation Id: 337199
• ClinVar RCV Id: RCV000345499
• dbSNP Id: rs886056364
• gnomAD v3: 2-85546417-A-G
• gnomAD v4: 2-85546417-A-G
• MyVariant Identifiers: chr2:g.85773540A>G (hg19) ; chr2:g.85546417A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85546417A>G , CM000664.2:g.85546417A>G	GRCh38
NC_000002.11:g.85773540A>G , CM000664.1:g.85773540A>G	GRCh37
NC_000002.10:g.85627051A>G	NCBI36
NG_011811.2:g.20118T>C
NG_029183.1:g.12440A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000233838.9:c.*3517T>C MANE Select	ENSP00000233838.3:n.*3517T>C
ENST00000233838.8:c.*3517T>C	ENSP00000233838.3:n.*3517T>C
NM_000821.5:c.*3517T>C	NP_000812.2:n.*3517T>C
NM_000821.6:c.*3517T>C	NP_000812.2:n.*3517T>C
NM_001142269.2:c.*3517T>C	NP_001135741.1:n.*3517T>C
NM_001142269.3:c.*3517T>C	NP_001135741.1:n.*3517T>C
NM_000821.7:c.*3517T>C MANE Select	NP_000812.2:n.*3517T>C
NM_001142269.4:c.*3517T>C	NP_001135741.1:n.*3517T>C