Canonical Allele Identifier: CA2938858
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs758150901
ExAC: 4:68606436 T / G
gnomAD v2: 4-68606436-T-G
MyVariant Identifiers: chr4:g.68606436T>G (hg19) chr4:g.67740718T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740718T>G , CM000666.2:g.67740718T>G GRCh38
NC_000004.11:g.68606436T>G , CM000666.1:g.68606436T>G GRCh37
NC_000004.10:g.68289031T>G NCBI36
NG_009293.1:g.20369A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.749A>C MANE Select ENSP00000226413.5:p.Gln250Pro
ENST00000226413.4:c.749A>C ENSP00000226413.4:p.Gln250Pro
ENST00000420975.2:c.621A>C ENSP00000397561.2:p.Thr207=
NM_000406.2:c.749A>C NP_000397.1:p.Gln250Pro
NM_001012763.1:c.621A>C NP_001012781.1:p.Thr207=
NM_000406.3:c.749A>C MANE Select NP_000397.1:p.Gln250Pro
NM_001012763.2:c.621A>C NP_001012781.1:p.Thr207=
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