Canonical Allele Identifier: CA369628095

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142651362A>T (hg19) ; chr7:g.142954275A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142954275A>T , CM000669.2:g.142954275A>T	GRCh38
NC_000007.13:g.142651362A>T , CM000669.1:g.142651362A>T	GRCh37
NC_000007.12:g.142361484A>T	NCBI36
NG_007492.1:g.13142T>A
NG_007492.2:g.13142T>A
NG_007492.3:g.13142T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.833T>A MANE Select	ENSP00000347409.2:p.Ile278Asn
ENST00000355265.6:c.833T>A	ENSP00000347409.2:p.Ile278Asn
ENST00000479768.6:n.951T>A
NM_000420.2:c.833T>A	NP_000411.1:p.Ile278Asn
XM_005249993.2:c.869T>A	XP_005250050.1:p.Ile290Asn
XM_005249994.3:c.-115T>A	XP_005250051.1:n.-115T>A
NM_000420.3:c.833T>A MANE Select	NP_000411.1:p.Ile278Asn