Canonical Allele Identifier: CA1099865462

Gene:

Linked Data

• dbSNP Id: rs1362549257
• gnomAD v3: 7-30897636-C-A
• gnomAD v4: 7-30897636-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897636C>A , CM000669.2:g.30897636C>A	GRCh38
NC_000007.13:g.30937251C>A , CM000669.1:g.30937251C>A	GRCh37
NC_000007.12:g.30903776C>A	NCBI36
NG_007475.2:g.49243C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509504.2:c.622-14357C>A