Canonical Allele Identifier: CA156094336

Gene:

Linked Data

• dbSNP Id: rs899794291
• gnomAD v2: 7-30936988-G-A
• gnomAD v3: 7-30897373-G-A
• gnomAD v4: 7-30897373-G-A
• MyVariant Identifiers: chr7:g.30936988G>A (hg19) ; chr7:g.30897373G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897373G>A , CM000669.2:g.30897373G>A	GRCh38
NC_000007.13:g.30936988G>A , CM000669.1:g.30936988G>A	GRCh37
NC_000007.12:g.30903513G>A	NCBI36
NG_007475.2:g.48980G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509504.2:c.621+14380G>A