Canonical Allele Identifier: CA107748689

Gene:

Linked Data

• dbSNP Id: rs968417487
• MyVariant Identifiers: chr4:g.145480700G>A (hg19) ; chr4:g.144559548G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559548G>A , CM000666.2:g.144559548G>A	GRCh38
NC_000004.11:g.145480700G>A , CM000666.1:g.145480700G>A	GRCh37
NC_000004.10:g.145700150G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143570C>T	ENSP00000497507.1:n.328-143570C>T
XR_939272.1:n.178+2436C>T
XR_939273.1:n.178+2436C>T
XR_939272.2:n.522+2436C>T
XR_939273.2:n.522+2436C>T