Canonical Allele Identifier: CA369630758

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142654970A>T (hg19) ; chr7:g.142957883A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957883A>T , CM000669.2:g.142957883A>T	GRCh38
NC_000007.13:g.142654970A>T , CM000669.1:g.142654970A>T	GRCh37
NC_000007.12:g.142365092A>T	NCBI36
NG_007492.1:g.9534T>A
NG_007492.2:g.9534T>A
NG_007492.3:g.9534T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.616T>A MANE Select	ENSP00000347409.2:p.Phe206Ile
ENST00000467543.6:c.*468T>A	ENSP00000420011.2:n.*468T>A
ENST00000355265.6:c.616T>A	ENSP00000347409.2:p.Phe206Ile
ENST00000467543.5:c.559T>A	ENSP00000420011.1:p.Phe187Ile
ENST00000476829.5:c.525+421T>A	ENSP00000419889.1:n.525+421T>A
ENST00000479768.6:n.734T>A
ENST00000494148.1:n.215T>A
NM_000420.2:c.616T>A	NP_000411.1:p.Phe206Ile
XM_005249993.2:c.652T>A	XP_005250050.1:p.Phe218Ile
NM_000420.3:c.616T>A MANE Select	NP_000411.1:p.Phe206Ile