Canonical Allele Identifier: CA168203557

Gene: KEL

Linked Data

• dbSNP Id: rs8176058
• gnomAD v4: 7:142957921 G / C
• MyVariant Identifiers: chr7:g.142655008G>C (hg19) ; chr7:g.142957921G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957921G>C , CM000669.2:g.142957921G>C	GRCh38
NC_000007.13:g.142655008G>C , CM000669.1:g.142655008G>C	GRCh37
NC_000007.12:g.142365130G>C	NCBI36
NG_007492.1:g.9496C>G
NG_007492.2:g.9496C>G
NG_007492.3:g.9496C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355265.7:c.578C>G MANE Select	ENSP00000347409.2:p.Thr193Arg
ENST00000467543.6:c.*430C>G	ENSP00000420011.2:n.*430C>G
ENST00000355265.6:c.578C>G	ENSP00000347409.2:p.Thr193Arg
ENST00000467543.5:c.521C>G	ENSP00000420011.1:p.Thr174Arg
ENST00000476829.5:c.525+383C>G	ENSP00000419889.1:n.525+383C>G
ENST00000479768.6:n.696C>G
ENST00000494148.1:n.177C>G
NM_000420.2:c.578C>G	NP_000411.1:p.Thr193Arg
XM_005249993.2:c.614C>G	XP_005250050.1:p.Thr205Arg
NM_000420.3:c.578C>G MANE Select	NP_000411.1:p.Thr193Arg