Canonical Allele Identifier: CA4534562

Gene: KEL

Linked Data

• dbSNP Id: rs201077750
• ExAC: 7:142655080 G / C
• gnomAD v2: 7-142655080-G-C
• gnomAD v3: 7-142957993-G-C
• gnomAD v4: 7-142957993-G-C
• MyVariant Identifiers: chr7:g.142655080G>C (hg19) ; chr7:g.142957993G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957993G>C , CM000669.2:g.142957993G>C	GRCh38
NC_000007.13:g.142655080G>C , CM000669.1:g.142655080G>C	GRCh37
NC_000007.12:g.142365202G>C	NCBI36
NG_007492.1:g.9424C>G
NG_007492.2:g.9424C>G
NG_007492.3:g.9424C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.526-20C>G MANE Select	ENSP00000347409.2:n.526-20C>G
ENST00000467543.6:c.*378-20C>G	ENSP00000420011.2:n.*378-20C>G
ENST00000355265.6:c.526-20C>G	ENSP00000347409.2:n.526-20C>G
ENST00000467543.5:c.469-20C>G	ENSP00000420011.1:n.469-20C>G
ENST00000476829.5:c.525+311C>G	ENSP00000419889.1:n.525+311C>G
ENST00000479768.6:n.644-20C>G
ENST00000494148.1:n.125-20C>G
NM_000420.2:c.526-20C>G	NP_000411.1:n.526-20C>G
XM_005249993.2:c.562-20C>G	XP_005250050.1:n.562-20C>G
NM_000420.3:c.526-20C>G MANE Select	NP_000411.1:n.526-20C>G