Canonical Allele Identifier: CA458278971

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142651355T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142954268T>A , CM000669.2:g.142954268T>A	GRCh38
NC_000007.13:g.142651355T>A , CM000669.1:g.142651355T>A	GRCh37
NC_000007.12:g.142361477T>A	NCBI36
NG_007492.1:g.13149A>T
NG_007492.2:g.13149A>T
NG_007492.3:g.13149A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.840A>T MANE Select	ENSP00000347409.2:p.Ser280=
ENST00000355265.6:c.840A>T	ENSP00000347409.2:p.Ser280=
ENST00000479768.6:n.958A>T
NM_000420.2:c.840A>T	NP_000411.1:p.Ser280=
XM_005249993.2:c.876A>T	XP_005250050.1:p.Ser292=
XM_005249994.3:c.-108A>T	XP_005250051.1:n.-108A>T
NM_000420.3:c.840A>T MANE Select	NP_000411.1:p.Ser280=