Canonical Allele Identifier: CA369631270

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655034T>A (hg19) ; chr7:g.142957947T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957947T>A , CM000669.2:g.142957947T>A	GRCh38
NC_000007.13:g.142655034T>A , CM000669.1:g.142655034T>A	GRCh37
NC_000007.12:g.142365156T>A	NCBI36
NG_007492.1:g.9470A>T
NG_007492.2:g.9470A>T
NG_007492.3:g.9470A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.552A>T MANE Select	ENSP00000347409.2:p.Lys184Asn
ENST00000467543.6:c.*404A>T	ENSP00000420011.2:n.*404A>T
ENST00000355265.6:c.552A>T	ENSP00000347409.2:p.Lys184Asn
ENST00000467543.5:c.495A>T	ENSP00000420011.1:p.Lys165Asn
ENST00000476829.5:c.525+357A>T	ENSP00000419889.1:n.525+357A>T
ENST00000479768.6:n.670A>T
ENST00000494148.1:n.151A>T
NM_000420.2:c.552A>T	NP_000411.1:p.Lys184Asn
XM_005249993.2:c.588A>T	XP_005250050.1:p.Lys196Asn
NM_000420.3:c.552A>T MANE Select	NP_000411.1:p.Lys184Asn