Canonical Allele Identifier: CA3254466

Gene: GHR

Linked Data

• ClinVar Variation Id: 1921867
• ClinVar RCV Id: RCV002613358
• dbSNP Id: rs768004162
• ExAC: 5:42711348 T / C
• gnomAD v2: 5-42711348-T-C
• gnomAD v3: 5-42711246-T-C
• gnomAD v4: 5-42711246-T-C
• MyVariant Identifiers: chr5:g.42711348T>C (hg19) ; chr5:g.42711246T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.42711246T>C , CM000667.2:g.42711246T>C	GRCh38
NC_000005.9:g.42711348T>C , CM000667.1:g.42711348T>C	GRCh37
NC_000005.8:g.42747105T>C	NCBI36
NG_011688.1:g.292323T>C
NG_011688.2:g.292323T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230882.9:c.658T>C MANE Select	ENSP00000230882.4:p.Leu220=
ENST00000230882.8:c.658T>C	ENSP00000230882.4:p.Leu220=
ENST00000357703.6:c.592T>C	ENSP00000350335.3:p.Leu198=
ENST00000511135.5:c.*270T>C	ENSP00000422333.1:n.*270T>C
ENST00000537449.5:c.658T>C	ENSP00000442206.2:p.Leu220=
ENST00000612382.4:c.658T>C	ENSP00000478332.1:p.Leu220=
ENST00000612626.4:c.658T>C	ENSP00000479846.1:p.Leu220=
ENST00000615111.4:c.658T>C	ENSP00000478291.1:p.Leu220=
ENST00000618088.4:c.658T>C	ENSP00000482373.1:p.Leu220=
ENST00000620156.4:c.679T>C	ENSP00000483403.1:p.Leu227=
ENST00000622294.2:c.658T>C	ENSP00000483926.1:p.Leu220=
NM_000163.4:c.658T>C	NP_000154.1:p.Leu220=
NM_001242399.2:c.679T>C	NP_001229328.1:p.Leu227=
NM_001242400.2:c.658T>C	NP_001229329.1:p.Leu220=
NM_001242401.3:c.658T>C	NP_001229330.1:p.Leu220=
NM_001242402.2:c.658T>C	NP_001229331.1:p.Leu220=
NM_001242403.2:c.658T>C	NP_001229332.1:p.Leu220=
NM_001242404.2:c.658T>C	NP_001229333.1:p.Leu220=
NM_001242405.2:c.658T>C	NP_001229334.1:p.Leu220=
NM_001242406.2:c.658T>C	NP_001229335.1:p.Leu220=
NM_001242460.1:c.592T>C	NP_001229389.1:p.Leu198=
NM_001242462.1:c.658T>C	NP_001229391.1:p.Leu220=
XM_011514031.1:c.613T>C	XP_011512333.1:p.Leu205=
NM_000163.5:c.658T>C MANE Select	NP_000154.1:p.Leu220=
NM_001242401.4:c.658T>C	NP_001229330.1:p.Leu220=
NM_001242403.3:c.658T>C	NP_001229332.1:p.Leu220=