Canonical Allele Identifier: CA4534533

Gene: KEL

Linked Data

• dbSNP Id: rs200773544
• ExAC: 7:142654917 G / T
• gnomAD v2: 7-142654917-G-T
• gnomAD v4: 7-142957830-G-T
• MyVariant Identifiers: chr7:g.142654917G>T (hg19) ; chr7:g.142957830G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957830G>T , CM000669.2:g.142957830G>T	GRCh38
NC_000007.13:g.142654917G>T , CM000669.1:g.142654917G>T	GRCh37
NC_000007.12:g.142365039G>T	NCBI36
NG_007492.1:g.9587C>A
NG_007492.2:g.9587C>A
NG_007492.3:g.9587C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.669C>A MANE Select	ENSP00000347409.2:p.Ile223=
ENST00000467543.6:c.*521C>A	ENSP00000420011.2:n.*521C>A
ENST00000355265.6:c.669C>A	ENSP00000347409.2:p.Ile223=
ENST00000467543.5:c.612C>A	ENSP00000420011.1:p.Ile204=
ENST00000476829.5:c.525+474C>A	ENSP00000419889.1:n.525+474C>A
ENST00000479768.6:n.787C>A
ENST00000494148.1:n.268C>A
NM_000420.2:c.669C>A	NP_000411.1:p.Ile223=
XM_005249993.2:c.705C>A	XP_005250050.1:p.Ile235=
NM_000420.3:c.669C>A MANE Select	NP_000411.1:p.Ile223=