Canonical Allele Identifier: CA35752252
Gene: KISS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2297186
ClinVar RCV Id: RCV004143285
dbSNP Id: rs931590237
gnomAD v2: 1-204159895-G-A
gnomAD v4: 1-204190767-G-A
MyVariant Identifiers: chr1:g.204159895G>A (hg19) chr1:g.204190767G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204190767G>A , CM000663.2:g.204190767G>A GRCh38
NC_000001.10:g.204159895G>A , CM000663.1:g.204159895G>A GRCh37
NC_000001.9:g.202426518G>A NCBI36
NG_032151.1:g.10725C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367194.5:c.134C>T MANE Select ENSP00000356162.4:p.Ala45Val
ENST00000367194.4:c.134C>T ENSP00000356162.4:p.Ala45Val
ENST00000625357.1:c.134C>T ENSP00000485957.1:p.Ala45Val
NM_002256.3:c.134C>T NP_002247.3:p.Ala45Val
XM_011509525.1:c.134C>T XP_011507827.1:p.Ala45Val
NM_002256.4:c.134C>T MANE Select NP_002247.3:p.Ala45Val
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