Canonical Allele Identifier: CA8354480

Gene: SHBG

Linked Data

• ClinVar Variation Id: 1222450
• ClinVar RCV Id: RCV001598080 ; RCV003966240
• dbSNP Id: rs6259
• ExAC: 17:7536527 G / A
• gnomAD v2: 17-7536527-G-A
• gnomAD v3: 17-7633209-G-A
• gnomAD v4: 17-7633209-G-A
• MyVariant Identifiers: chr17:g.7536527G>A (hg19) ; chr17:g.7633209G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7633209G>A , CM000679.2:g.7633209G>A	GRCh38
NC_000017.10:g.7536527G>A , CM000679.1:g.7536527G>A	GRCh37
NC_000017.9:g.7477252G>A	NCBI36
NG_011981.2:g.24146G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380450.9:c.1066G>A MANE Select	ENSP00000369816.4:p.Asp356Asn
ENST00000340624.9:c.892G>A	ENSP00000345675.6:p.Asp298Asn
ENST00000380450.8:c.1066G>A	ENSP00000369816.4:p.Asp356Asn
ENST00000416273.7:c.858G>A	ENSP00000388867.3:p.Lys286=
ENST00000441599.6:c.721G>A	ENSP00000393426.2:p.Asp241Asn
ENST00000570353.5:c.*428G>A	ENSP00000458199.1:n.*428G>A
ENST00000570527.5:c.*1024G>A	ENSP00000461162.1:n.*1024G>A
ENST00000570547.5:c.547G>A	ENSP00000458875.1:p.Asp183Asn
ENST00000571153.5:c.615G>A	ENSP00000458858.1:p.Lys205=
ENST00000572182.5:c.225G>A	ENSP00000458816.1:p.Lys75=
ENST00000572262.5:c.730G>A	ENSP00000459999.1:p.Asp244Asn
ENST00000574539.5:c.684G>A	ENSP00000458181.1:p.Lys228=
ENST00000575314.5:c.892G>A	ENSP00000458559.1:p.Asp298Asn
ENST00000575618.5:c.318G>A	ENSP00000459826.1:p.Lys106=
ENST00000575903.5:c.1012G>A	ENSP00000458973.1:p.Asp338Asn
ENST00000576152.1:c.478G>A	ENSP00000461743.1:p.Asp160Asn
ENST00000576478.5:c.385G>A	ENSP00000461133.1:p.Asp129Asn
ENST00000576728.5:c.522G>A	ENSP00000459620.1:p.Lys174=
ENST00000576830.5:c.640G>A	ENSP00000460219.1:p.Asp214Asn
NM_001040.4:c.1066G>A	NP_001031.2:p.Asp356Asn
NM_001146279.2:c.1012G>A	NP_001139751.1:p.Asp338Asn
NM_001146280.2:c.858G>A	NP_001139752.1:p.Lys286=
NM_001146281.2:c.721G>A	NP_001139753.1:p.Asp241Asn
NM_001289113.1:c.892G>A	NP_001276042.1:p.Asp298Asn
NM_001289114.1:c.892G>A	NP_001276043.1:p.Asp298Asn
NM_001289115.1:c.684G>A	NP_001276044.1:p.Lys228=
NM_001289116.1:c.718G>A	NP_001276045.1:p.Asp240Asn
NM_001040.5:c.1066G>A MANE Select	NP_001031.2:p.Asp356Asn
NM_001146279.3:c.1012G>A	NP_001139751.1:p.Asp338Asn
NM_001146280.3:c.858G>A	NP_001139752.1:p.Lys286=
NM_001289116.2:c.718G>A	NP_001276045.1:p.Asp240Asn
NM_001146281.3:c.721G>A	NP_001139753.1:p.Asp241Asn
NM_001289113.2:c.892G>A	NP_001276042.1:p.Asp298Asn
NM_001289114.2:c.892G>A	NP_001276043.1:p.Asp298Asn
NM_001289115.2:c.684G>A	NP_001276044.1:p.Lys228=