Canonical Allele Identifier: CA10625361

Gene: AGK

Linked Data

• ClinVar Variation Id: 359053
• ClinVar RCV Id: RCV000266812 ; RCV000324289
• dbSNP Id: rs886062018
• gnomAD v3: 7-141551361-G-C
• gnomAD v4: 7-141551361-G-C
• MyVariant Identifiers: chr7:g.141251161G>C (hg19) ; chr7:g.141551361G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.141551361G>C , CM000669.2:g.141551361G>C	GRCh38
NC_000007.13:g.141251161G>C , CM000669.1:g.141251161G>C	GRCh37
NC_000007.12:g.140897630G>C	NCBI36
NG_032079.1:g.5084G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355413.8:c.-88G>C	ENSP00000347581.4:n.-88G>C
ENST00000629555.2:c.-88G>C	ENSP00000487274.1:n.-88G>C
NM_018238.3:c.-88G>C	NP_060708.1:n.-88G>C