Canonical Allele Identifier: CA369630930

Gene: KEL

Linked Data

• gnomAD v4: 7-142957901-G-C
• MyVariant Identifiers: chr7:g.142654988G>C (hg19) ; chr7:g.142957901G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957901G>C , CM000669.2:g.142957901G>C	GRCh38
NC_000007.13:g.142654988G>C , CM000669.1:g.142654988G>C	GRCh37
NC_000007.12:g.142365110G>C	NCBI36
NG_007492.1:g.9516C>G
NG_007492.2:g.9516C>G
NG_007492.3:g.9516C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.598C>G MANE Select	ENSP00000347409.2:p.Gln200Glu
ENST00000467543.6:c.*450C>G	ENSP00000420011.2:n.*450C>G
ENST00000355265.6:c.598C>G	ENSP00000347409.2:p.Gln200Glu
ENST00000467543.5:c.541C>G	ENSP00000420011.1:p.Gln181Glu
ENST00000476829.5:c.525+403C>G	ENSP00000419889.1:n.525+403C>G
ENST00000479768.6:n.716C>G
ENST00000494148.1:n.197C>G
NM_000420.2:c.598C>G	NP_000411.1:p.Gln200Glu
XM_005249993.2:c.634C>G	XP_005250050.1:p.Gln212Glu
NM_000420.3:c.598C>G MANE Select	NP_000411.1:p.Gln200Glu