Canonical Allele Identifier: CA369631234

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655031C>A (hg19) ; chr7:g.142957944C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957944C>A , CM000669.2:g.142957944C>A	GRCh38
NC_000007.13:g.142655031C>A , CM000669.1:g.142655031C>A	GRCh37
NC_000007.12:g.142365153C>A	NCBI36
NG_007492.1:g.9473G>T
NG_007492.2:g.9473G>T
NG_007492.3:g.9473G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.555G>T MANE Select	ENSP00000347409.2:p.Trp185Cys
ENST00000467543.6:c.*407G>T	ENSP00000420011.2:n.*407G>T
ENST00000355265.6:c.555G>T	ENSP00000347409.2:p.Trp185Cys
ENST00000467543.5:c.498G>T	ENSP00000420011.1:p.Trp166Cys
ENST00000476829.5:c.525+360G>T	ENSP00000419889.1:n.525+360G>T
ENST00000479768.6:n.673G>T
ENST00000494148.1:n.154G>T
NM_000420.2:c.555G>T	NP_000411.1:p.Trp185Cys
XM_005249993.2:c.591G>T	XP_005250050.1:p.Trp197Cys
NM_000420.3:c.555G>T MANE Select	NP_000411.1:p.Trp185Cys