Canonical Allele Identifier: CA369630350
Gene: KEL HGNC NCBI

Linked Data

gnomAD v4: 7-142957826-C-T
MyVariant Identifiers: chr7:g.142654913C>T (hg19) chr7:g.142957826C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142957826C>T , CM000669.2:g.142957826C>T GRCh38
NC_000007.13:g.142654913C>T , CM000669.1:g.142654913C>T GRCh37
NC_000007.12:g.142365035C>T NCBI36
NG_007492.1:g.9591G>A
NG_007492.2:g.9591G>A
NG_007492.3:g.9591G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.672+1G>A MANE Select ENSP00000347409.2:n.672+1G>A
ENST00000355265.6:c.672+1G>A ENSP00000347409.2:n.672+1G>A
ENST00000476829.5:c.525+478G>A ENSP00000419889.1:n.525+478G>A
ENST00000479768.6:n.790+1G>A
ENST00000494148.1:n.271+1G>A
NM_000420.2:c.672+1G>A NP_000411.1:n.672+1G>A
XM_005249993.2:c.708+1G>A XP_005250050.1:n.708+1G>A
NM_000420.3:c.672+1G>A MANE Select NP_000411.1:n.672+1G>A
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