Canonical Allele Identifier: CA168203781
Gene: KEL HGNC NCBI

Linked Data

dbSNP Id: rs747221410
gnomAD v4: 7-142958121-T-C
MyVariant Identifiers: chr7:g.142655208T>C (hg19) chr7:g.142958121T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142958121T>C , CM000669.2:g.142958121T>C GRCh38
NC_000007.13:g.142655208T>C , CM000669.1:g.142655208T>C GRCh37
NC_000007.12:g.142365330T>C NCBI36
NG_007492.1:g.9296A>G
NG_007492.2:g.9296A>G
NG_007492.3:g.9296A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.526-148A>G MANE Select ENSP00000347409.2:n.526-148A>G
ENST00000467543.6:c.*378-148A>G ENSP00000420011.2:n.*378-148A>G
ENST00000355265.6:c.526-148A>G ENSP00000347409.2:n.526-148A>G
ENST00000467543.5:c.469-148A>G ENSP00000420011.1:n.469-148A>G
ENST00000476829.5:c.525+183A>G ENSP00000419889.1:n.525+183A>G
ENST00000479768.6:n.644-148A>G
ENST00000494148.1:n.125-148A>G
NM_000420.2:c.526-148A>G NP_000411.1:n.526-148A>G
XM_005249993.2:c.562-148A>G XP_005250050.1:n.562-148A>G
NM_000420.3:c.526-148A>G MANE Select NP_000411.1:n.526-148A>G
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