Canonical Allele Identifier: CA798375016

Gene:

Linked Data

• dbSNP Id: rs1158507219
• gnomAD v3: 4-74554079-C-T
• gnomAD v4: 4-74554079-C-T
• MyVariant Identifiers: chr4:g.74554079C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.74554079C>T , CM000666.2:g.74554079C>T	GRCh38
NC_000004.11:g.75419796C>T , CM000666.1:g.75419796C>T	GRCh37
NC_000004.10:g.75638660C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741513.1:n.167-1247G>A