Canonical Allele Identifier: CA369631353

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655044A>G (hg19) ; chr7:g.142957957A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957957A>G , CM000669.2:g.142957957A>G	GRCh38
NC_000007.13:g.142655044A>G , CM000669.1:g.142655044A>G	GRCh37
NC_000007.12:g.142365166A>G	NCBI36
NG_007492.1:g.9460T>C
NG_007492.2:g.9460T>C
NG_007492.3:g.9460T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.542T>C MANE Select	ENSP00000347409.2:p.Ile181Thr
ENST00000467543.6:c.*394T>C	ENSP00000420011.2:n.*394T>C
ENST00000355265.6:c.542T>C	ENSP00000347409.2:p.Ile181Thr
ENST00000467543.5:c.485T>C	ENSP00000420011.1:p.Ile162Thr
ENST00000476829.5:c.525+347T>C	ENSP00000419889.1:n.525+347T>C
ENST00000479768.6:n.660T>C
ENST00000494148.1:n.141T>C
NM_000420.2:c.542T>C	NP_000411.1:p.Ile181Thr
XM_005249993.2:c.578T>C	XP_005250050.1:p.Ile193Thr
NM_000420.3:c.542T>C MANE Select	NP_000411.1:p.Ile181Thr