Canonical Allele Identifier: CA11784058

Gene:

Linked Data

• dbSNP Id: rs10022462
• gnomAD: 4:89243818 C / T
• MyVariant Identifiers: chr4:g.89243818C>T (hg19) ; chr4:g.88322666C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88322666C>T , CM000666.2:g.88322666C>T	GRCh38
NC_000004.11:g.89243818C>T , CM000666.1:g.89243818C>T	GRCh37
NC_000004.10:g.89462842C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_244670.3:n.641+3241C>T
XR_938963.1:n.641+3241C>T
NR_134236.1:n.425+3241C>T
NR_134237.1:n.349+3241C>T
NR_134238.1:n.330+5859C>T