Canonical Allele Identifier: CA8262604

Gene: GEMIN4

Linked Data

• ClinVar Variation Id: 3099344
• ClinVar RCV Id: RCV004387690
• dbSNP Id: rs373738849
• ExAC: 17:649694 A / C
• gnomAD v2: 17-649694-A-C
• gnomAD v3: 17-746454-A-C
• gnomAD v4: 17-746454-A-C
• MyVariant Identifiers: chr17:g.649694A>C (hg19) ; chr17:g.746454A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.746454A>C , CM000679.2:g.746454A>C	GRCh38
NC_000017.10:g.649694A>C , CM000679.1:g.649694A>C	GRCh37
NC_000017.9:g.596444A>C	NCBI36
NG_046938.1:g.11419T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.1589T>G MANE Select	ENSP00000321706.5:p.Phe530Cys
ENST00000319004.5:c.1589T>G	ENSP00000321706.5:p.Phe530Cys
ENST00000576778.1:c.1556T>G	ENSP00000459565.1:p.Phe519Cys
NM_015721.2:c.1589T>G	NP_056536.2:p.Phe530Cys
XM_005256667.3:c.1601T>G	XP_005256724.1:p.Phe534Cys
XM_005256668.3:c.1601T>G	XP_005256725.1:p.Phe534Cys
XM_005256670.3:c.1556T>G	XP_005256727.1:p.Phe519Cys
XM_011523910.1:c.1601T>G	XP_011522212.1:p.Phe534Cys
XM_011523911.1:c.1601T>G	XP_011522213.1:p.Phe534Cys
XM_011523912.1:c.1556T>G	XP_011522214.1:p.Phe519Cys
XM_011523913.1:c.1556T>G	XP_011522215.1:p.Phe519Cys
XM_005256667.4:c.1601T>G	XP_005256724.1:p.Phe534Cys
XM_005256670.5:c.1556T>G	XP_005256727.1:p.Phe519Cys
XM_011523910.2:c.1601T>G	XP_011522212.1:p.Phe534Cys
XM_011523911.2:c.1601T>G	XP_011522213.1:p.Phe534Cys
XM_011523912.2:c.1556T>G	XP_011522214.1:p.Phe519Cys
XM_011523913.2:c.1556T>G	XP_011522215.1:p.Phe519Cys
XM_017024709.1:c.1601T>G	XP_016880198.1:p.Phe534Cys
NM_015721.3:c.1589T>G MANE Select	NP_056536.2:p.Phe530Cys