Canonical Allele Identifier: CA107748439
Gene:

Linked Data

dbSNP Id: rs944964773
MyVariant Identifiers: chr4:g.145480464T>G (hg19) chr4:g.144559312T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559312T>G , CM000666.2:g.144559312T>G GRCh38
NC_000004.11:g.145480464T>G , CM000666.1:g.145480464T>G GRCh37
NC_000004.10:g.145699914T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143334A>C ENSP00000497507.1:n.328-143334A>C
XR_939272.1:n.178+2672A>C
XR_939273.1:n.178+2672A>C
XR_939272.2:n.522+2672A>C
XR_939273.2:n.522+2672A>C
Search 100 bp 5'
Search 100 bp 3'