Canonical Allele Identifier: CA344346365
Gene: KISS1 HGNC NCBI

Linked Data

dbSNP Id: rs1429366684
gnomAD v2: 1-204159612-T-C
gnomAD v3: 1-204190484-T-C
gnomAD v4: 1-204190484-T-C
COSMIC: COSM6374790
MyVariant Identifiers: chr1:g.204159612T>C (hg19) chr1:g.204190484T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204190484T>C , CM000663.2:g.204190484T>C GRCh38
NC_000001.10:g.204159612T>C , CM000663.1:g.204159612T>C GRCh37
NC_000001.9:g.202426235T>C NCBI36
NG_032151.1:g.11008A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367194.5:c.417A>G MANE Select ENSP00000356162.4:p.Ter139Trp
ENST00000367194.4:c.417A>G ENSP00000356162.4:p.Ter139Trp
ENST00000625357.1:c.415-2A>G ENSP00000485957.1:n.415-2A>G
NM_002256.3:c.417A>G NP_002247.3:p.Ter139Trp
XM_011509525.1:c.417A>G XP_011507827.1:p.Ter139Trp
NM_002256.4:c.417A>G MANE Select NP_002247.3:p.Ter139Trp
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