Canonical Allele Identifier: CA555410608

Gene:

Linked Data

• dbSNP Id: rs1216939254
• gnomAD v2: 4-145522578-G-C
• MyVariant Identifiers: chr4:g.145522578G>C (hg19) ; chr4:g.144601426G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601426G>C , CM000666.2:g.144601426G>C	GRCh38
NC_000004.11:g.145522578G>C , CM000666.1:g.145522578G>C	GRCh37
NC_000004.10:g.145742028G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-185448C>G	ENSP00000497507.1:n.328-185448C>G