Canonical Allele Identifier: CA369631192

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655024A>T (hg19) ; chr7:g.142957937A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957937A>T , CM000669.2:g.142957937A>T	GRCh38
NC_000007.13:g.142655024A>T , CM000669.1:g.142655024A>T	GRCh37
NC_000007.12:g.142365146A>T	NCBI36
NG_007492.1:g.9480T>A
NG_007492.2:g.9480T>A
NG_007492.3:g.9480T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.562T>A MANE Select	ENSP00000347409.2:p.Leu188Ile
ENST00000467543.6:c.*414T>A	ENSP00000420011.2:n.*414T>A
ENST00000355265.6:c.562T>A	ENSP00000347409.2:p.Leu188Ile
ENST00000467543.5:c.505T>A	ENSP00000420011.1:p.Leu169Ile
ENST00000476829.5:c.525+367T>A	ENSP00000419889.1:n.525+367T>A
ENST00000479768.6:n.680T>A
ENST00000494148.1:n.161T>A
NM_000420.2:c.562T>A	NP_000411.1:p.Leu188Ile
XM_005249993.2:c.598T>A	XP_005250050.1:p.Leu200Ile
NM_000420.3:c.562T>A MANE Select	NP_000411.1:p.Leu188Ile