Canonical Allele Identifier: CA458279118

Gene: KEL

Linked Data

• gnomAD v4: 7-142957872-G-A
• MyVariant Identifiers: chr7:g.142654959G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957872G>A , CM000669.2:g.142957872G>A	GRCh38
NC_000007.13:g.142654959G>A , CM000669.1:g.142654959G>A	GRCh37
NC_000007.12:g.142365081G>A	NCBI36
NG_007492.1:g.9545C>T
NG_007492.2:g.9545C>T
NG_007492.3:g.9545C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.627C>T MANE Select	ENSP00000347409.2:p.Ala209=
ENST00000467543.6:c.*479C>T	ENSP00000420011.2:n.*479C>T
ENST00000355265.6:c.627C>T	ENSP00000347409.2:p.Ala209=
ENST00000467543.5:c.570C>T	ENSP00000420011.1:p.Ala190=
ENST00000476829.5:c.525+432C>T	ENSP00000419889.1:n.525+432C>T
ENST00000479768.6:n.745C>T
ENST00000494148.1:n.226C>T
NM_000420.2:c.627C>T	NP_000411.1:p.Ala209=
XM_005249993.2:c.663C>T	XP_005250050.1:p.Ala221=
NM_000420.3:c.627C>T MANE Select	NP_000411.1:p.Ala209=