Canonical Allele Identifier: CA1108098936

Gene: KEL

Linked Data

• dbSNP Id: rs1796873845
• gnomAD v3: 7-142958174-A-G
• gnomAD v4: 7-142958174-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958174A>G , CM000669.2:g.142958174A>G	GRCh38
NC_000007.13:g.142655261A>G , CM000669.1:g.142655261A>G	GRCh37
NC_000007.12:g.142365383A>G	NCBI36
NG_007492.1:g.9243T>C
NG_007492.2:g.9243T>C
NG_007492.3:g.9243T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.525+130T>C MANE Select	ENSP00000347409.2:n.525+130T>C
ENST00000467543.6:c.*377+130T>C	ENSP00000420011.2:n.*377+130T>C
ENST00000355265.6:c.525+130T>C	ENSP00000347409.2:n.525+130T>C
ENST00000467543.5:c.468+130T>C	ENSP00000420011.1:n.468+130T>C
ENST00000476829.5:c.525+130T>C	ENSP00000419889.1:n.525+130T>C
ENST00000479768.6:n.643+130T>C
ENST00000494148.1:n.124+130T>C
NM_000420.2:c.525+130T>C	NP_000411.1:n.525+130T>C
XM_005249993.2:c.561+130T>C	XP_005250050.1:n.561+130T>C
NM_000420.3:c.525+130T>C MANE Select	NP_000411.1:n.525+130T>C