Canonical Allele Identifier: CA92831166

Gene:

Linked Data

• dbSNP Id: rs73227706
• gnomAD v2: 4-11503652-C-T
• gnomAD v3: 4-11502028-C-T
• gnomAD v4: 4-11502028-C-T
• MyVariant Identifiers: chr4:g.11503652C>T (hg19) ; chr4:g.11502028C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.11502028C>T , CM000666.2:g.11502028C>T	GRCh38
NC_000004.11:g.11503652C>T , CM000666.1:g.11503652C>T	GRCh37
NC_000004.10:g.11112750C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001741361.1:n.950+19182C>T