Canonical Allele Identifier: CA369630458

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142654927G>C (hg19) ; chr7:g.142957840G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957840G>C , CM000669.2:g.142957840G>C	GRCh38
NC_000007.13:g.142654927G>C , CM000669.1:g.142654927G>C	GRCh37
NC_000007.12:g.142365049G>C	NCBI36
NG_007492.1:g.9577C>G
NG_007492.2:g.9577C>G
NG_007492.3:g.9577C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.659C>G MANE Select	ENSP00000347409.2:p.Thr220Arg
ENST00000467543.6:c.*511C>G	ENSP00000420011.2:n.*511C>G
ENST00000355265.6:c.659C>G	ENSP00000347409.2:p.Thr220Arg
ENST00000467543.5:c.602C>G	ENSP00000420011.1:p.Thr201Arg
ENST00000476829.5:c.525+464C>G	ENSP00000419889.1:n.525+464C>G
ENST00000479768.6:n.777C>G
ENST00000494148.1:n.258C>G
NM_000420.2:c.659C>G	NP_000411.1:p.Thr220Arg
XM_005249993.2:c.695C>G	XP_005250050.1:p.Thr232Arg
NM_000420.3:c.659C>G MANE Select	NP_000411.1:p.Thr220Arg