Canonical Allele Identifier: CA369631177

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655022T>A (hg19) ; chr7:g.142957935T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957935T>A , CM000669.2:g.142957935T>A	GRCh38
NC_000007.13:g.142655022T>A , CM000669.1:g.142655022T>A	GRCh37
NC_000007.12:g.142365144T>A	NCBI36
NG_007492.1:g.9482A>T
NG_007492.2:g.9482A>T
NG_007492.3:g.9482A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.564A>T MANE Select	ENSP00000347409.2:p.Leu188Phe
ENST00000467543.6:c.*416A>T	ENSP00000420011.2:n.*416A>T
ENST00000355265.6:c.564A>T	ENSP00000347409.2:p.Leu188Phe
ENST00000467543.5:c.507A>T	ENSP00000420011.1:p.Leu169Phe
ENST00000476829.5:c.525+369A>T	ENSP00000419889.1:n.525+369A>T
ENST00000479768.6:n.682A>T
ENST00000494148.1:n.163A>T
NM_000420.2:c.564A>T	NP_000411.1:p.Leu188Phe
XM_005249993.2:c.600A>T	XP_005250050.1:p.Leu200Phe
NM_000420.3:c.564A>T MANE Select	NP_000411.1:p.Leu188Phe