Canonical Allele Identifier: CA788493364

Gene:

Linked Data

• dbSNP Id: rs1393263322
• gnomAD v3: 4-144601649-A-C
• gnomAD v4: 4-144601649-A-C
• MyVariant Identifiers: chr4:g.145522801A>C (hg19) ; chr4:g.144601649A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601649A>C , CM000666.2:g.144601649A>C	GRCh38
NC_000004.11:g.145522801A>C , CM000666.1:g.145522801A>C	GRCh37
NC_000004.10:g.145742251A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000649263.1:c.328-185671T>G	ENSP00000497507.1:n.328-185671T>G