Canonical Allele Identifier: CA154409024

Gene:

Linked Data

• dbSNP Id: rs555715915
• gnomAD v2: 7-13553954-A-C
• gnomAD v3: 7-13514329-A-C
• gnomAD v4: 7-13514329-A-C
• MyVariant Identifiers: chr7:g.13553954A>C (hg19) ; chr7:g.13514329A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.13514329A>C , CM000669.2:g.13514329A>C	GRCh38
NC_000007.13:g.13553954A>C , CM000669.1:g.13553954A>C	GRCh37
NC_000007.12:g.13520479A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001745097.1:n.148-187987A>C