Canonical Allele Identifier: CA35752247
Gene: KISS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3115174
ClinVar RCV Id: RCV004406492
dbSNP Id: rs928040235
gnomAD v2: 1-204159887-C-G
gnomAD v3: 1-204190759-C-G
gnomAD v4: 1-204190759-C-G
MyVariant Identifiers: chr1:g.204159887C>G (hg19) chr1:g.204190759C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204190759C>G , CM000663.2:g.204190759C>G GRCh38
NC_000001.10:g.204159887C>G , CM000663.1:g.204159887C>G GRCh37
NC_000001.9:g.202426510C>G NCBI36
NG_032151.1:g.10733G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367194.5:c.142G>C MANE Select ENSP00000356162.4:p.Glu48Gln
ENST00000367194.4:c.142G>C ENSP00000356162.4:p.Glu48Gln
ENST00000625357.1:c.142G>C ENSP00000485957.1:p.Glu48Gln
NM_002256.3:c.142G>C NP_002247.3:p.Glu48Gln
XM_011509525.1:c.142G>C XP_011507827.1:p.Glu48Gln
NM_002256.4:c.142G>C MANE Select NP_002247.3:p.Glu48Gln
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