Canonical Allele Identifier: CA1748724426
Gene: KEL HGNC NCBI

Linked Data

dbSNP Id: rs1357081483
gnomAD v4: 7-142957744-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142957744C>G , CM000669.2:g.142957744C>G GRCh38
NC_000007.13:g.142654831C>G , CM000669.1:g.142654831C>G GRCh37
NC_000007.12:g.142364953C>G NCBI36
NG_007492.1:g.9673G>C
NG_007492.2:g.9673G>C
NG_007492.3:g.9673G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.672+83G>C MANE Select ENSP00000347409.2:n.672+83G>C
ENST00000355265.6:c.672+83G>C ENSP00000347409.2:n.672+83G>C
ENST00000476829.5:c.525+560G>C ENSP00000419889.1:n.525+560G>C
ENST00000479768.6:n.790+83G>C
ENST00000494148.1:n.271+83G>C
NM_000420.2:c.672+83G>C NP_000411.1:n.672+83G>C
XM_005249993.2:c.708+83G>C XP_005250050.1:n.708+83G>C
NM_000420.3:c.672+83G>C MANE Select NP_000411.1:n.672+83G>C
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