Canonical Allele Identifier: CA3774248
Gene: CLPS HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.35797166T>C
GRCh37 chr6:g.35764943T>C
gnomAD v2:
6:35764943 T / C
gnomAD v3:
6:35797166 T / C
gnomAD v4:
chr6-35797166-T-C
Joint Max Group AF 0.26170784 (NFE)
Genomes Max Group AF 0.25590409 (NFE)
Exomes Max Group AF 0.26190059 (NFE)
dbSNP:
3748051
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35797166T>C , CM000668.2:g.35797166T>C GRCh38
NC_000006.11:g.35764943T>C , CM000668.1:g.35764943T>C GRCh37
NC_000006.10:g.35872921T>C NCBI36
NG_012184.3:g.4961T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259938.7:c.84+39A>G MANE Select ENSP00000259938.2:n.84+39A>G
ENST00000259938.6:c.84+39A>G ENSP00000259938.2:n.84+39A>G
ENST00000616014.3:c.84+39A>G ENSP00000483589.1:n.84+39A>G
NM_001252597.1:c.-57+39A>G NP_001239526.1:n.-57+39A>G
NM_001252598.1:c.84+39A>G NP_001239527.1:n.84+39A>G
NM_001832.3:c.84+39A>G NP_001823.1:n.84+39A>G
NM_001252597.2:c.-57+39A>G NP_001239526.1:n.-57+39A>G
NM_001832.4:c.84+39A>G MANE Select NP_001823.1:n.84+39A>G
NM_001252598.2:c.84+39A>G NP_001239527.1:n.84+39A>G
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