Canonical Allele Identifier: CA458279157

Gene: KEL

Linked Data

• gnomAD v4: 7-142957935-T-C
• MyVariant Identifiers: chr7:g.142655022T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957935T>C , CM000669.2:g.142957935T>C	GRCh38
NC_000007.13:g.142655022T>C , CM000669.1:g.142655022T>C	GRCh37
NC_000007.12:g.142365144T>C	NCBI36
NG_007492.1:g.9482A>G
NG_007492.2:g.9482A>G
NG_007492.3:g.9482A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.564A>G MANE Select	ENSP00000347409.2:p.Leu188=
ENST00000467543.6:c.*416A>G	ENSP00000420011.2:n.*416A>G
ENST00000355265.6:c.564A>G	ENSP00000347409.2:p.Leu188=
ENST00000467543.5:c.507A>G	ENSP00000420011.1:p.Leu169=
ENST00000476829.5:c.525+369A>G	ENSP00000419889.1:n.525+369A>G
ENST00000479768.6:n.682A>G
ENST00000494148.1:n.163A>G
NM_000420.2:c.564A>G	NP_000411.1:p.Leu188=
XM_005249993.2:c.600A>G	XP_005250050.1:p.Leu200=
NM_000420.3:c.564A>G MANE Select	NP_000411.1:p.Leu188=