Canonical Allele Identifier: CA458279088

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142654923T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957836T>G , CM000669.2:g.142957836T>G	GRCh38
NC_000007.13:g.142654923T>G , CM000669.1:g.142654923T>G	GRCh37
NC_000007.12:g.142365045T>G	NCBI36
NG_007492.1:g.9581A>C
NG_007492.2:g.9581A>C
NG_007492.3:g.9581A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.663A>C MANE Select	ENSP00000347409.2:p.Pro221=
ENST00000467543.6:c.*515A>C	ENSP00000420011.2:n.*515A>C
ENST00000355265.6:c.663A>C	ENSP00000347409.2:p.Pro221=
ENST00000467543.5:c.606A>C	ENSP00000420011.1:p.Pro202=
ENST00000476829.5:c.525+468A>C	ENSP00000419889.1:n.525+468A>C
ENST00000479768.6:n.781A>C
ENST00000494148.1:n.262A>C
NM_000420.2:c.663A>C	NP_000411.1:p.Pro221=
XM_005249993.2:c.699A>C	XP_005250050.1:p.Pro233=
NM_000420.3:c.663A>C MANE Select	NP_000411.1:p.Pro221=