Canonical Allele Identifier: CA369631265

Gene: KEL

Linked Data

• gnomAD v4: 7-142957946-A-G
• MyVariant Identifiers: chr7:g.142655033A>G (hg19) ; chr7:g.142957946A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957946A>G , CM000669.2:g.142957946A>G	GRCh38
NC_000007.13:g.142655033A>G , CM000669.1:g.142655033A>G	GRCh37
NC_000007.12:g.142365155A>G	NCBI36
NG_007492.1:g.9471T>C
NG_007492.2:g.9471T>C
NG_007492.3:g.9471T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.553T>C MANE Select	ENSP00000347409.2:p.Trp185Arg
ENST00000467543.6:c.*405T>C	ENSP00000420011.2:n.*405T>C
ENST00000355265.6:c.553T>C	ENSP00000347409.2:p.Trp185Arg
ENST00000467543.5:c.496T>C	ENSP00000420011.1:p.Trp166Arg
ENST00000476829.5:c.525+358T>C	ENSP00000419889.1:n.525+358T>C
ENST00000479768.6:n.671T>C
ENST00000494148.1:n.152T>C
NM_000420.2:c.553T>C	NP_000411.1:p.Trp185Arg
XM_005249993.2:c.589T>C	XP_005250050.1:p.Trp197Arg
NM_000420.3:c.553T>C MANE Select	NP_000411.1:p.Trp185Arg