Canonical Allele Identifier: CA369631018

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142654999A>G (hg19) ; chr7:g.142957912A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957912A>G , CM000669.2:g.142957912A>G	GRCh38
NC_000007.13:g.142654999A>G , CM000669.1:g.142654999A>G	GRCh37
NC_000007.12:g.142365121A>G	NCBI36
NG_007492.1:g.9505T>C
NG_007492.2:g.9505T>C
NG_007492.3:g.9505T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.587T>C MANE Select	ENSP00000347409.2:p.Leu196Pro
ENST00000467543.6:c.*439T>C	ENSP00000420011.2:n.*439T>C
ENST00000355265.6:c.587T>C	ENSP00000347409.2:p.Leu196Pro
ENST00000467543.5:c.530T>C	ENSP00000420011.1:p.Leu177Pro
ENST00000476829.5:c.525+392T>C	ENSP00000419889.1:n.525+392T>C
ENST00000479768.6:n.705T>C
ENST00000494148.1:n.186T>C
NM_000420.2:c.587T>C	NP_000411.1:p.Leu196Pro
XM_005249993.2:c.623T>C	XP_005250050.1:p.Leu208Pro
NM_000420.3:c.587T>C MANE Select	NP_000411.1:p.Leu196Pro