Canonical Allele Identifier: CA555415625

Gene:

Linked Data

• dbSNP Id: rs1470643772
• gnomAD v2: 4-145480996-C-A
• gnomAD v3: 4-144559844-C-A
• gnomAD v4: 4-144559844-C-A
• MyVariant Identifiers: chr4:g.145480996C>A (hg19) ; chr4:g.144559844C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559844C>A , CM000666.2:g.144559844C>A	GRCh38
NC_000004.11:g.145480996C>A , CM000666.1:g.145480996C>A	GRCh37
NC_000004.10:g.145700446C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143866G>T	ENSP00000497507.1:n.328-143866G>T
XR_939272.1:n.178+2140G>T
XR_939273.1:n.178+2140G>T
XR_939272.2:n.522+2140G>T
XR_939273.2:n.522+2140G>T