Canonical Allele Identifier: CA369631511

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655062T>G (hg19) ; chr7:g.142957975T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957975T>G , CM000669.2:g.142957975T>G	GRCh38
NC_000007.13:g.142655062T>G , CM000669.1:g.142655062T>G	GRCh37
NC_000007.12:g.142365184T>G	NCBI36
NG_007492.1:g.9442A>C
NG_007492.2:g.9442A>C
NG_007492.3:g.9442A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-2A>C MANE Select	ENSP00000347409.2:n.526-2A>C
ENST00000467543.6:c.*378-2A>C	ENSP00000420011.2:n.*378-2A>C
ENST00000355265.6:c.526-2A>C	ENSP00000347409.2:n.526-2A>C
ENST00000467543.5:c.469-2A>C	ENSP00000420011.1:n.469-2A>C
ENST00000476829.5:c.525+329A>C	ENSP00000419889.1:n.525+329A>C
ENST00000479768.6:n.644-2A>C
ENST00000494148.1:n.125-2A>C
NM_000420.2:c.526-2A>C	NP_000411.1:n.526-2A>C
XM_005249993.2:c.562-2A>C	XP_005250050.1:n.562-2A>C
NM_000420.3:c.526-2A>C MANE Select	NP_000411.1:n.526-2A>C