Canonical Allele Identifier: CA369631123

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655016A>C (hg19) ; chr7:g.142957929A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957929A>C , CM000669.2:g.142957929A>C	GRCh38
NC_000007.13:g.142655016A>C , CM000669.1:g.142655016A>C	GRCh37
NC_000007.12:g.142365138A>C	NCBI36
NG_007492.1:g.9488T>G
NG_007492.2:g.9488T>G
NG_007492.3:g.9488T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355265.7:c.570T>G MANE Select	ENSP00000347409.2:p.Phe190Leu
ENST00000467543.6:c.*422T>G	ENSP00000420011.2:n.*422T>G
ENST00000355265.6:c.570T>G	ENSP00000347409.2:p.Phe190Leu
ENST00000467543.5:c.513T>G	ENSP00000420011.1:p.Phe171Leu
ENST00000476829.5:c.525+375T>G	ENSP00000419889.1:n.525+375T>G
ENST00000479768.6:n.688T>G
ENST00000494148.1:n.169T>G
NM_000420.2:c.570T>G	NP_000411.1:p.Phe190Leu
XM_005249993.2:c.606T>G	XP_005250050.1:p.Phe202Leu
NM_000420.3:c.570T>G MANE Select	NP_000411.1:p.Phe190Leu