Canonical Allele Identifier: CA369631333

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655041G>C (hg19) ; chr7:g.142957954G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957954G>C , CM000669.2:g.142957954G>C	GRCh38
NC_000007.13:g.142655041G>C , CM000669.1:g.142655041G>C	GRCh37
NC_000007.12:g.142365163G>C	NCBI36
NG_007492.1:g.9463C>G
NG_007492.2:g.9463C>G
NG_007492.3:g.9463C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.545C>G MANE Select	ENSP00000347409.2:p.Ser182Cys
ENST00000467543.6:c.*397C>G	ENSP00000420011.2:n.*397C>G
ENST00000355265.6:c.545C>G	ENSP00000347409.2:p.Ser182Cys
ENST00000467543.5:c.488C>G	ENSP00000420011.1:p.Ser163Cys
ENST00000476829.5:c.525+350C>G	ENSP00000419889.1:n.525+350C>G
ENST00000479768.6:n.663C>G
ENST00000494148.1:n.144C>G
NM_000420.2:c.545C>G	NP_000411.1:p.Ser182Cys
XM_005249993.2:c.581C>G	XP_005250050.1:p.Ser194Cys
NM_000420.3:c.545C>G MANE Select	NP_000411.1:p.Ser182Cys