Canonical Allele Identifier: CA369631280

Gene: KEL

Linked Data

• dbSNP Id: rs1317221640
• gnomAD v3: 7-142957949-T-C
• gnomAD v4: 7-142957949-T-C
• MyVariant Identifiers: chr7:g.142655036T>C (hg19) ; chr7:g.142957949T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957949T>C , CM000669.2:g.142957949T>C	GRCh38
NC_000007.13:g.142655036T>C , CM000669.1:g.142655036T>C	GRCh37
NC_000007.12:g.142365158T>C	NCBI36
NG_007492.1:g.9468A>G
NG_007492.2:g.9468A>G
NG_007492.3:g.9468A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.550A>G MANE Select	ENSP00000347409.2:p.Lys184Glu
ENST00000467543.6:c.*402A>G	ENSP00000420011.2:n.*402A>G
ENST00000355265.6:c.550A>G	ENSP00000347409.2:p.Lys184Glu
ENST00000467543.5:c.493A>G	ENSP00000420011.1:p.Lys165Glu
ENST00000476829.5:c.525+355A>G	ENSP00000419889.1:n.525+355A>G
ENST00000479768.6:n.668A>G
ENST00000494148.1:n.149A>G
NM_000420.2:c.550A>G	NP_000411.1:p.Lys184Glu
XM_005249993.2:c.586A>G	XP_005250050.1:p.Lys196Glu
NM_000420.3:c.550A>G MANE Select	NP_000411.1:p.Lys184Glu