Canonical Allele Identifier: CA369631087

Gene: KEL

Linked Data

• gnomAD v4: 7-142957924-C-A
• MyVariant Identifiers: chr7:g.142655011C>A (hg19) ; chr7:g.142957924C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957924C>A , CM000669.2:g.142957924C>A	GRCh38
NC_000007.13:g.142655011C>A , CM000669.1:g.142655011C>A	GRCh37
NC_000007.12:g.142365133C>A	NCBI36
NG_007492.1:g.9493G>T
NG_007492.2:g.9493G>T
NG_007492.3:g.9493G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.575G>T MANE Select	ENSP00000347409.2:p.Arg192Leu
ENST00000467543.6:c.*427G>T	ENSP00000420011.2:n.*427G>T
ENST00000355265.6:c.575G>T	ENSP00000347409.2:p.Arg192Leu
ENST00000467543.5:c.518G>T	ENSP00000420011.1:p.Arg173Leu
ENST00000476829.5:c.525+380G>T	ENSP00000419889.1:n.525+380G>T
ENST00000479768.6:n.693G>T
ENST00000494148.1:n.174G>T
NM_000420.2:c.575G>T	NP_000411.1:p.Arg192Leu
XM_005249993.2:c.611G>T	XP_005250050.1:p.Arg204Leu
NM_000420.3:c.575G>T MANE Select	NP_000411.1:p.Arg192Leu