Canonical Allele Identifier: CA1099865431

Gene:

Linked Data

• dbSNP Id: rs1790896426
• gnomAD v3: 7-30897505-T-A
• gnomAD v4: 7-30897505-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897505T>A , CM000669.2:g.30897505T>A	GRCh38
NC_000007.13:g.30937120T>A , CM000669.1:g.30937120T>A	GRCh37
NC_000007.12:g.30903645T>A	NCBI36
NG_007475.2:g.49112T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.622-14488T>A