Canonical Allele Identifier: CA9569229

Gene: TRPM4

Linked Data

• ClinVar Variation Id: 241176
• ClinVar RCV Id: RCV001529188 ; RCV002392715
• dbSNP Id: rs71352737
• ExAC: 19:49686146 G / A
• gnomAD v2: 19-49686146-G-A
• gnomAD v3: 19-49182889-G-A
• gnomAD v4: 19-49182889-G-A
• MyVariant Identifiers: chr19:g.49686146G>A (hg19) ; chr19:g.49182889G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49182889G>A , CM000681.2:g.49182889G>A	GRCh38
NC_000019.9:g.49686146G>A , CM000681.1:g.49686146G>A	GRCh37
NC_000019.8:g.54377958G>A	NCBI36
NG_027551.1:g.30131G>A
NG_027551.2:g.30131G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252826.10:c.1575G>A MANE Select	ENSP00000252826.4:p.Trp525Ter
ENST00000252826.9:c.1575G>A	ENSP00000252826.4:p.Trp525Ter
ENST00000427978.6:c.1575G>A	ENSP00000407492.1:p.Trp525Ter
ENST00000595071.5:n.364G>A
ENST00000595519.5:c.*985G>A	ENSP00000469893.1:n.*985G>A
ENST00000596338.5:n.1497G>A
ENST00000598502.5:c.*721+22G>A	ENSP00000470229.1:n.*721+22G>A
ENST00000598697.5:c.*530G>A	ENSP00000468989.1:n.*530G>A
NM_001195227.1:c.1575G>A	NP_001182156.1:p.Trp525Ter
NM_017636.3:c.1575G>A	NP_060106.2:p.Trp525Ter
XM_005259017.1:c.288G>A	XP_005259074.1:p.Trp96Ter
XM_005259018.2:c.-1+22G>A	XP_005259075.1:n.-1+22G>A
XM_011527046.1:c.1053G>A	XP_011525348.1:p.Trp351Ter
NM_001321281.1:c.1230G>A	NP_001308210.1:p.Trp410Ter
NM_001321282.1:c.-1+22G>A	NP_001308211.1:n.-1+22G>A
NM_001321283.1:c.1053G>A	NP_001308212.1:p.Trp351Ter
NM_001321285.1:c.513G>A	NP_001308214.1:p.Trp171Ter
XM_024451557.1:c.-542+22G>A	XP_024307325.1:n.-542+22G>A
NM_017636.4:c.1575G>A MANE Select	NP_060106.2:p.Trp525Ter
NM_001195227.2:c.1575G>A	NP_001182156.1:p.Trp525Ter
NM_001321281.2:c.1230G>A	NP_001308210.1:p.Trp410Ter
NM_001321282.2:c.-1+22G>A	NP_001308211.1:n.-1+22G>A
NM_001321283.2:c.1053G>A	NP_001308212.1:p.Trp351Ter
NM_001321285.2:c.513G>A	NP_001308214.1:p.Trp171Ter