Canonical Allele Identifier: CA458279129

Gene: KEL

Linked Data

• gnomAD v4: 7-142957890-A-G
• MyVariant Identifiers: chr7:g.142654977A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.609T>C MANE Select	ENSP00000347409.2:p.His203=
ENST00000467543.6:c.*461T>C	ENSP00000420011.2:n.*461T>C
ENST00000355265.6:c.609T>C	ENSP00000347409.2:p.His203=
ENST00000467543.5:c.552T>C	ENSP00000420011.1:p.His184=
ENST00000476829.5:c.525+414T>C	ENSP00000419889.1:n.525+414T>C
ENST00000479768.6:n.727T>C
ENST00000494148.1:n.208T>C
NM_000420.2:c.609T>C	NP_000411.1:p.His203=
XM_005249993.2:c.645T>C	XP_005250050.1:p.His215=
NM_000420.3:c.609T>C MANE Select	NP_000411.1:p.His203=