Canonical Allele Identifier: CA1069062268

Gene:

Linked Data

• dbSNP Id: rs1727417736
• gnomAD v3: 4-144601646-T-C
• gnomAD v4: 4-144601646-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601646T>C , CM000666.2:g.144601646T>C	GRCh38
NC_000004.11:g.145522798T>C , CM000666.1:g.145522798T>C	GRCh37
NC_000004.10:g.145742248T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000649263.1:c.328-185668A>G	ENSP00000497507.1:n.328-185668A>G