Canonical Allele Identifier: CA458279087

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142654920G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957833G>T , CM000669.2:g.142957833G>T	GRCh38
NC_000007.13:g.142654920G>T , CM000669.1:g.142654920G>T	GRCh37
NC_000007.12:g.142365042G>T	NCBI36
NG_007492.1:g.9584C>A
NG_007492.2:g.9584C>A
NG_007492.3:g.9584C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355265.7:c.666C>A MANE Select	ENSP00000347409.2:p.Val222=
ENST00000467543.6:c.*518C>A	ENSP00000420011.2:n.*518C>A
ENST00000355265.6:c.666C>A	ENSP00000347409.2:p.Val222=
ENST00000467543.5:c.609C>A	ENSP00000420011.1:p.Val203=
ENST00000476829.5:c.525+471C>A	ENSP00000419889.1:n.525+471C>A
ENST00000479768.6:n.784C>A
ENST00000494148.1:n.265C>A
NM_000420.2:c.666C>A	NP_000411.1:p.Val222=
XM_005249993.2:c.702C>A	XP_005250050.1:p.Val234=
NM_000420.3:c.666C>A MANE Select	NP_000411.1:p.Val222=