Canonical Allele Identifier: CA250716

Gene: TRPM4

Linked Data

• ClinVar Variation Id: 35487
• ClinVar RCV Id: RCV000029159 ; RCV000208441 ; RCV001093252 ; RCV000990240 ; RCV002381261
• dbSNP Id: rs201907325
• ExAC: 19:49685865 G / A
• gnomAD v2: 19-49685865-G-A
• gnomAD v3: 19-49182608-G-A
• gnomAD v4: 19-49182608-G-A
• COSMIC: COSM1395204
• MyVariant Identifiers: chr19:g.49685865G>A (hg19) ; chr19:g.49182608G>A (hg38)
• PubMed: PMID:619595 ; PMID:20562447 ; PMID:21887725

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49182608G>A , CM000681.2:g.49182608G>A	GRCh38
NC_000019.9:g.49685865G>A , CM000681.1:g.49685865G>A	GRCh37
NC_000019.8:g.54377677G>A	NCBI36
NG_027551.1:g.29850G>A
NG_027551.2:g.29850G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252826.10:c.1294G>A MANE Select	ENSP00000252826.4:p.Ala432Thr
ENST00000252826.9:c.1294G>A	ENSP00000252826.4:p.Ala432Thr
ENST00000427978.6:c.1294G>A	ENSP00000407492.1:p.Ala432Thr
ENST00000595071.5:n.83G>A
ENST00000595519.5:c.*704G>A	ENSP00000469893.1:n.*704G>A
ENST00000596338.5:n.1216G>A
ENST00000598502.5:c.*462G>A	ENSP00000470229.1:n.*462G>A
ENST00000598697.5:c.*249G>A	ENSP00000468989.1:n.*249G>A
ENST00000601347.1:n.495G>A
NM_001195227.1:c.1294G>A	NP_001182156.1:p.Ala432Thr
NM_017636.3:c.1294G>A	NP_060106.2:p.Ala432Thr
XM_005259017.1:c.7G>A	XP_005259074.1:p.Ala3Thr
XM_011527046.1:c.772G>A	XP_011525348.1:p.Ala258Thr
NM_001321281.1:c.949G>A	NP_001308210.1:p.Ala317Thr
NM_001321282.1:c.-260G>A	NP_001308211.1:n.-260G>A
NM_001321283.1:c.772G>A	NP_001308212.1:p.Ala258Thr
NM_001321285.1:c.232G>A	NP_001308214.1:p.Ala78Thr
XM_024451557.1:c.-801G>A	XP_024307325.1:n.-801G>A
NM_017636.4:c.1294G>A MANE Select	NP_060106.2:p.Ala432Thr
NM_001195227.2:c.1294G>A	NP_001182156.1:p.Ala432Thr
NM_001321281.2:c.949G>A	NP_001308210.1:p.Ala317Thr
NM_001321282.2:c.-260G>A	NP_001308211.1:n.-260G>A
NM_001321283.2:c.772G>A	NP_001308212.1:p.Ala258Thr
NM_001321285.2:c.232G>A	NP_001308214.1:p.Ala78Thr