Canonical Allele Identifier: CA1099865413

Gene:

Linked Data

• dbSNP Id: rs1424799276
• gnomAD v3: 7-30897409-T-G
• gnomAD v4: 7-30897409-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897409T>G , CM000669.2:g.30897409T>G	GRCh38
NC_000007.13:g.30937024T>G , CM000669.1:g.30937024T>G	GRCh37
NC_000007.12:g.30903549T>G	NCBI36
NG_007475.2:g.49016T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509504.2:c.621+14416T>G