Canonical Allele Identifier: CA4534526
Gene: KEL HGNC NCBI

Linked Data

dbSNP Id: rs750225984
ExAC: 7:142654881 G / T
gnomAD v2: 7-142654881-G-T
gnomAD v3: 7-142957794-G-T
gnomAD v4: 7-142957794-G-T
MyVariant Identifiers: chr7:g.142654881G>T (hg19) chr7:g.142957794G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142957794G>T , CM000669.2:g.142957794G>T GRCh38
NC_000007.13:g.142654881G>T , CM000669.1:g.142654881G>T GRCh37
NC_000007.12:g.142365003G>T NCBI36
NG_007492.1:g.9623C>A
NG_007492.2:g.9623C>A
NG_007492.3:g.9623C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.672+33C>A MANE Select ENSP00000347409.2:n.672+33C>A
ENST00000355265.6:c.672+33C>A ENSP00000347409.2:n.672+33C>A
ENST00000476829.5:c.525+510C>A ENSP00000419889.1:n.525+510C>A
ENST00000479768.6:n.790+33C>A
ENST00000494148.1:n.271+33C>A
NM_000420.2:c.672+33C>A NP_000411.1:n.672+33C>A
XM_005249993.2:c.708+33C>A XP_005250050.1:n.708+33C>A
NM_000420.3:c.672+33C>A MANE Select NP_000411.1:n.672+33C>A
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