Canonical Allele Identifier: CA369630406

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142654919T>G (hg19) ; chr7:g.142957832T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957832T>G , CM000669.2:g.142957832T>G	GRCh38
NC_000007.13:g.142654919T>G , CM000669.1:g.142654919T>G	GRCh37
NC_000007.12:g.142365041T>G	NCBI36
NG_007492.1:g.9585A>C
NG_007492.2:g.9585A>C
NG_007492.3:g.9585A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.667A>C MANE Select	ENSP00000347409.2:p.Ile223Leu
ENST00000467543.6:c.*519A>C	ENSP00000420011.2:n.*519A>C
ENST00000355265.6:c.667A>C	ENSP00000347409.2:p.Ile223Leu
ENST00000467543.5:c.610A>C	ENSP00000420011.1:p.Ile204Leu
ENST00000476829.5:c.525+472A>C	ENSP00000419889.1:n.525+472A>C
ENST00000479768.6:n.785A>C
ENST00000494148.1:n.266A>C
NM_000420.2:c.667A>C	NP_000411.1:p.Ile223Leu
XM_005249993.2:c.703A>C	XP_005250050.1:p.Ile235Leu
NM_000420.3:c.667A>C MANE Select	NP_000411.1:p.Ile223Leu