Canonical Allele Identifier: CA090939

Gene: TRPM4

Linked Data

• ClinVar Variation Id: 35489
• ClinVar RCV Id: RCV000029161 ; RCV000249699 ; RCV000434894 ; RCV003964814
• dbSNP Id: rs200038418
• ExAC: 19:49700017 G / A
• gnomAD v2: 19-49700017-G-A
• gnomAD v3: 19-49196760-G-A
• gnomAD v4: 19-49196760-G-A
• MyVariant Identifiers: chr19:g.49700017G>A (hg19) ; chr19:g.49196760G>A (hg38)
• PubMed: PMID:20562447 ; PMID:21887725 ; PMID:23382873 ; PMID:25231975 ; PMID:25441424 ; PMID:26636822 ; PMID:26820365 ; PMID:27181684 ; PMID:27207958

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49196760G>A , CM000681.2:g.49196760G>A	GRCh38
NC_000019.9:g.49700017G>A , CM000681.1:g.49700017G>A	GRCh37
NC_000019.8:g.54391829G>A	NCBI36
NG_027551.1:g.44002G>A
NG_027551.2:g.44002G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252826.10:c.2531G>A MANE Select	ENSP00000252826.4:p.Gly844Asp
ENST00000252826.9:c.2531G>A	ENSP00000252826.4:p.Gly844Asp
ENST00000427978.6:c.2211-3540G>A	ENSP00000407492.1:n.2211-3540G>A
ENST00000595071.5:n.1495G>A
ENST00000595519.5:c.*1941G>A	ENSP00000469893.1:n.*1941G>A
ENST00000596338.5:n.2628G>A
ENST00000598502.5:c.*1644G>A	ENSP00000470229.1:n.*1644G>A
ENST00000598697.5:c.*1486G>A	ENSP00000468989.1:n.*1486G>A
NM_001195227.1:c.2211-3540G>A	NP_001182156.1:n.2211-3540G>A
NM_017636.3:c.2531G>A	NP_060106.2:p.Gly844Asp
XM_005259017.1:c.1244G>A	XP_005259074.1:p.Gly415Asp
XM_005259018.2:c.923G>A	XP_005259075.1:p.Gly308Asp
XM_011527046.1:c.2009G>A	XP_011525348.1:p.Gly670Asp
NM_001321281.1:c.2186G>A	NP_001308210.1:p.Gly729Asp
NM_001321282.1:c.923G>A	NP_001308211.1:p.Gly308Asp
NM_001321283.1:c.2009G>A	NP_001308212.1:p.Gly670Asp
NM_001321285.1:c.1469G>A	NP_001308214.1:p.Gly490Asp
XM_024451557.1:c.557G>A	XP_024307325.1:p.Gly186Asp
NM_017636.4:c.2531G>A MANE Select	NP_060106.2:p.Gly844Asp
NM_001195227.2:c.2211-3540G>A	NP_001182156.1:n.2211-3540G>A
NM_001321281.2:c.2186G>A	NP_001308210.1:p.Gly729Asp
NM_001321282.2:c.923G>A	NP_001308211.1:p.Gly308Asp
NM_001321283.2:c.2009G>A	NP_001308212.1:p.Gly670Asp
NM_001321285.2:c.1469G>A	NP_001308214.1:p.Gly490Asp