Canonical Allele Identifier: CA369631278

Gene: KEL

Linked Data

• gnomAD v4: 7-142957948-T-G
• MyVariant Identifiers: chr7:g.142655035T>G (hg19) ; chr7:g.142957948T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957948T>G , CM000669.2:g.142957948T>G	GRCh38
NC_000007.13:g.142655035T>G , CM000669.1:g.142655035T>G	GRCh37
NC_000007.12:g.142365157T>G	NCBI36
NG_007492.1:g.9469A>C
NG_007492.2:g.9469A>C
NG_007492.3:g.9469A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.551A>C MANE Select	ENSP00000347409.2:p.Lys184Thr
ENST00000467543.6:c.*403A>C	ENSP00000420011.2:n.*403A>C
ENST00000355265.6:c.551A>C	ENSP00000347409.2:p.Lys184Thr
ENST00000467543.5:c.494A>C	ENSP00000420011.1:p.Lys165Thr
ENST00000476829.5:c.525+356A>C	ENSP00000419889.1:n.525+356A>C
ENST00000479768.6:n.669A>C
ENST00000494148.1:n.150A>C
NM_000420.2:c.551A>C	NP_000411.1:p.Lys184Thr
XM_005249993.2:c.587A>C	XP_005250050.1:p.Lys196Thr
NM_000420.3:c.551A>C MANE Select	NP_000411.1:p.Lys184Thr