Canonical Allele Identifier: CA1069332459

Gene:

Linked Data

• dbSNP Id: rs1731231770
• gnomAD v3: 4-148649659-C-T
• gnomAD v4: 4-148649659-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148649659C>T , CM000666.2:g.148649659C>T	GRCh38
NC_000004.11:g.149570811C>T , CM000666.1:g.149570811C>T	GRCh37
NC_000004.10:g.149790261C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939336.1:n.436+30673G>A
XR_001741441.1:n.1745+105075C>T
XR_939336.3:n.2920+30673G>A