Canonical Allele Identifier: CA551358251

Gene:

Linked Data

• dbSNP Id: rs1357704846
• gnomAD v2: 4-55094489-C-T
• MyVariant Identifiers: chr4:g.55094489C>T (hg19) ; chr4:g.54228322C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54228322C>T , CM000666.2:g.54228322C>T	GRCh38
NC_000004.11:g.55094489C>T , CM000666.1:g.55094489C>T	GRCh37
NC_000004.10:g.54789246C>T	NCBI36
NG_009250.1:g.4226C>T , LRG_309:g.4226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507166.5:c.1018-46603C>T	ENSP00000423325.1:n.1018-46603C>T