Canonical Allele Identifier: CA1108098924

Gene: KEL

Linked Data

• dbSNP Id: rs1796872637
• gnomAD v3: 7-142958115-T-G
• gnomAD v4: 7-142958115-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142958115T>G , CM000669.2:g.142958115T>G	GRCh38
NC_000007.13:g.142655202T>G , CM000669.1:g.142655202T>G	GRCh37
NC_000007.12:g.142365324T>G	NCBI36
NG_007492.1:g.9302A>C
NG_007492.2:g.9302A>C
NG_007492.3:g.9302A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-142A>C MANE Select	ENSP00000347409.2:n.526-142A>C
ENST00000467543.6:c.*378-142A>C	ENSP00000420011.2:n.*378-142A>C
ENST00000355265.6:c.526-142A>C	ENSP00000347409.2:n.526-142A>C
ENST00000467543.5:c.469-142A>C	ENSP00000420011.1:n.469-142A>C
ENST00000476829.5:c.525+189A>C	ENSP00000419889.1:n.525+189A>C
ENST00000479768.6:n.644-142A>C
ENST00000494148.1:n.125-142A>C
NM_000420.2:c.526-142A>C	NP_000411.1:n.526-142A>C
XM_005249993.2:c.562-142A>C	XP_005250050.1:n.562-142A>C
NM_000420.3:c.526-142A>C MANE Select	NP_000411.1:n.526-142A>C