Canonical Allele Identifier: CA1059429890

Gene:

Linked Data

• dbSNP Id: rs1711579738
• gnomAD v3: 4-12577985-C-T
• gnomAD v4: 4-12577985-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.12577985C>T , CM000666.2:g.12577985C>T	GRCh38
NC_000004.11:g.12579609C>T , CM000666.1:g.12579609C>T	GRCh37
NC_000004.10:g.12188707C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_925406.1:n.106+31357G>A
XR_001741374.1:n.254+44670G>A
XR_925406.3:n.140+31357G>A