Canonical Allele Identifier: CA2592854323

Gene:

Linked Data

• dbSNP Id: rs2108921724
• gnomAD v3: 4-12578377-A-C
• gnomAD v4: 4-12578377-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.12578377A>C , CM000666.2:g.12578377A>C	GRCh38
NC_000004.11:g.12580001A>C , CM000666.1:g.12580001A>C	GRCh37
NC_000004.10:g.12189099A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_925406.1:n.106+30965T>G
XR_001741374.1:n.254+44278T>G
XR_925406.3:n.140+30965T>G