Canonical Allele Identifier: CA93117937

Gene:

Linked Data

• dbSNP Id: rs538594494
• gnomAD v2: 4-12580011-C-T
• gnomAD v3: 4-12578387-C-T
• gnomAD v4: 4-12578387-C-T
• MyVariant Identifiers: chr4:g.12580011C>T (hg19) ; chr4:g.12578387C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.12578387C>T , CM000666.2:g.12578387C>T	GRCh38
NC_000004.11:g.12580011C>T , CM000666.1:g.12580011C>T	GRCh37
NC_000004.10:g.12189109C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_925406.1:n.106+30955G>A
XR_001741374.1:n.254+44268G>A
XR_925406.3:n.140+30955G>A