Canonical Allele Identifier: CA369630813

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142654977A>C (hg19) ; chr7:g.142957890A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957890A>C , CM000669.2:g.142957890A>C	GRCh38
NC_000007.13:g.142654977A>C , CM000669.1:g.142654977A>C	GRCh37
NC_000007.12:g.142365099A>C	NCBI36
NG_007492.1:g.9527T>G
NG_007492.2:g.9527T>G
NG_007492.3:g.9527T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.609T>G MANE Select	ENSP00000347409.2:p.His203Gln
ENST00000467543.6:c.*461T>G	ENSP00000420011.2:n.*461T>G
ENST00000355265.6:c.609T>G	ENSP00000347409.2:p.His203Gln
ENST00000467543.5:c.552T>G	ENSP00000420011.1:p.His184Gln
ENST00000476829.5:c.525+414T>G	ENSP00000419889.1:n.525+414T>G
ENST00000479768.6:n.727T>G
ENST00000494148.1:n.208T>G
NM_000420.2:c.609T>G	NP_000411.1:p.His203Gln
XM_005249993.2:c.645T>G	XP_005250050.1:p.His215Gln
NM_000420.3:c.609T>G MANE Select	NP_000411.1:p.His203Gln