Canonical Allele Identifier: CA837548408

Gene:

Linked Data

• dbSNP Id: rs1258360964
• gnomAD v3: 7-30911440-G-A
• gnomAD v4: 7-30911440-G-A
• MyVariant Identifiers: chr7:g.30951055G>A (hg19) ; chr7:g.30911440G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30911440G>A , CM000669.2:g.30911440G>A	GRCh38
NC_000007.13:g.30951055G>A , CM000669.1:g.30951055G>A	GRCh37
NC_000007.12:g.30917580G>A	NCBI36
NG_007475.2:g.63047G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.622-553G>A