Canonical Allele Identifier: CA107754109

Gene:

Linked Data

• dbSNP Id: rs987869099
• gnomAD v2: 4-145522733-G-C
• gnomAD v3: 4-144601581-G-C
• gnomAD v4: 4-144601581-G-C
• MyVariant Identifiers: chr4:g.145522733G>C (hg19) ; chr4:g.144601581G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601581G>C , CM000666.2:g.144601581G>C	GRCh38
NC_000004.11:g.145522733G>C , CM000666.1:g.145522733G>C	GRCh37
NC_000004.10:g.145742183G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-185603C>G	ENSP00000497507.1:n.328-185603C>G