Canonical Allele Identifier: CA800736823

Gene:

Linked Data

• dbSNP Id: rs952883742
• gnomAD v3: 4-99474302-C-T
• gnomAD v4: 4-99474302-C-T
• MyVariant Identifiers: chr4:g.100395459C>T (hg19) ; chr4:g.99474302C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99474302C>T , CM000666.2:g.99474302C>T	GRCh38
NC_000004.11:g.100395459C>T , CM000666.1:g.100395459C>T	GRCh37
NC_000004.10:g.100614482C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506494.1:n.243-2440G>A