Canonical Allele Identifier: CA1059429998

Gene:

Linked Data

• dbSNP Id: rs1711588631
• gnomAD v3: 4-12578206-A-G
• gnomAD v4: 4-12578206-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.12578206A>G , CM000666.2:g.12578206A>G	GRCh38
NC_000004.11:g.12579830A>G , CM000666.1:g.12579830A>G	GRCh37
NC_000004.10:g.12188928A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_925406.1:n.106+31136T>C
XR_001741374.1:n.254+44449T>C
XR_925406.3:n.140+31136T>C