Canonical Allele Identifier: CA369631320

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655039C>A (hg19) ; chr7:g.142957952C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957952C>A , CM000669.2:g.142957952C>A	GRCh38
NC_000007.13:g.142655039C>A , CM000669.1:g.142655039C>A	GRCh37
NC_000007.12:g.142365161C>A	NCBI36
NG_007492.1:g.9465G>T
NG_007492.2:g.9465G>T
NG_007492.3:g.9465G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.547G>T MANE Select	ENSP00000347409.2:p.Gly183Cys
ENST00000467543.6:c.*399G>T	ENSP00000420011.2:n.*399G>T
ENST00000355265.6:c.547G>T	ENSP00000347409.2:p.Gly183Cys
ENST00000467543.5:c.490G>T	ENSP00000420011.1:p.Gly164Cys
ENST00000476829.5:c.525+352G>T	ENSP00000419889.1:n.525+352G>T
ENST00000479768.6:n.665G>T
ENST00000494148.1:n.146G>T
NM_000420.2:c.547G>T	NP_000411.1:p.Gly183Cys
XM_005249993.2:c.583G>T	XP_005250050.1:p.Gly195Cys
NM_000420.3:c.547G>T MANE Select	NP_000411.1:p.Gly183Cys