Canonical Allele Identifier: CA1069061933

Gene:

Linked Data

• gnomAD v3: 4-144601536-T-G
• gnomAD v4: 4-144601536-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601536T>G , CM000666.2:g.144601536T>G	GRCh38
NC_000004.11:g.145522688T>G , CM000666.1:g.145522688T>G	GRCh37
NC_000004.10:g.145742138T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-185558A>C	ENSP00000497507.1:n.328-185558A>C