Canonical Allele Identifier: CA834472054
Gene: KEL HGNC NCBI

Linked Data

dbSNP Id: rs756216482
gnomAD v4: 7-142957810-G-T
MyVariant Identifiers: chr7:g.142654897G>T (hg19) chr7:g.142957810G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142957810G>T , CM000669.2:g.142957810G>T GRCh38
NC_000007.13:g.142654897G>T , CM000669.1:g.142654897G>T GRCh37
NC_000007.12:g.142365019G>T NCBI36
NG_007492.1:g.9607C>A
NG_007492.2:g.9607C>A
NG_007492.3:g.9607C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.672+17C>A MANE Select ENSP00000347409.2:n.672+17C>A
ENST00000355265.6:c.672+17C>A ENSP00000347409.2:n.672+17C>A
ENST00000476829.5:c.525+494C>A ENSP00000419889.1:n.525+494C>A
ENST00000479768.6:n.790+17C>A
ENST00000494148.1:n.271+17C>A
NM_000420.2:c.672+17C>A NP_000411.1:n.672+17C>A
XM_005249993.2:c.708+17C>A XP_005250050.1:n.708+17C>A
NM_000420.3:c.672+17C>A MANE Select NP_000411.1:n.672+17C>A
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