Canonical Allele Identifier: CA573461947

Gene:

Linked Data

• dbSNP Id: rs1241254069
• gnomAD v2: 7-30951060-G-A
• gnomAD v3: 7-30911445-G-A
• gnomAD v4: 7-30911445-G-A
• MyVariant Identifiers: chr7:g.30951060G>A (hg19) ; chr7:g.30911445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30911445G>A , CM000669.2:g.30911445G>A	GRCh38
NC_000007.13:g.30951060G>A , CM000669.1:g.30951060G>A	GRCh37
NC_000007.12:g.30917585G>A	NCBI36
NG_007475.2:g.63052G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.622-548G>A