Canonical Allele Identifier: CA458279149

Gene: KEL

Linked Data

• dbSNP Id: rs1173121074
• gnomAD v2: 7-142655007-C-T
• gnomAD v3: 7-142957920-C-T
• gnomAD v4: 7-142957920-C-T
• MyVariant Identifiers: chr7:g.142655007C>T (hg19) ; chr7:g.142957920C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957920C>T , CM000669.2:g.142957920C>T	GRCh38
NC_000007.13:g.142655007C>T , CM000669.1:g.142655007C>T	GRCh37
NC_000007.12:g.142365129C>T	NCBI36
NG_007492.1:g.9497G>A
NG_007492.2:g.9497G>A
NG_007492.3:g.9497G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.579G>A MANE Select	ENSP00000347409.2:p.Thr193=
ENST00000467543.6:c.*431G>A	ENSP00000420011.2:n.*431G>A
ENST00000355265.6:c.579G>A	ENSP00000347409.2:p.Thr193=
ENST00000467543.5:c.522G>A	ENSP00000420011.1:p.Thr174=
ENST00000476829.5:c.525+384G>A	ENSP00000419889.1:n.525+384G>A
ENST00000479768.6:n.697G>A
ENST00000494148.1:n.178G>A
NM_000420.2:c.579G>A	NP_000411.1:p.Thr193=
XM_005249993.2:c.615G>A	XP_005250050.1:p.Thr205=
NM_000420.3:c.579G>A MANE Select	NP_000411.1:p.Thr193=