Canonical Allele Identifier: CA309424841

Gene: TRPM4

Linked Data

• ClinVar Variation Id: 518014
• ClinVar RCV Id: RCV000606598 ; RCV001412990
• dbSNP Id: rs960522960
• gnomAD v2: 19-49661154-G-A
• gnomAD v3: 19-49157897-G-A
• gnomAD v4: 19-49157897-G-A
• MyVariant Identifiers: chr19:g.49661154G>A (hg19) ; chr19:g.49157897G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49157897G>A , CM000681.2:g.49157897G>A	GRCh38
NC_000019.9:g.49661154G>A , CM000681.1:g.49661154G>A	GRCh37
NC_000019.8:g.54352966G>A	NCBI36
NG_027551.1:g.5139G>A
NG_027551.2:g.5139G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252826.10:c.24+7G>A MANE Select	ENSP00000252826.4:n.24+7G>A
ENST00000252826.9:c.24+7G>A	ENSP00000252826.4:n.24+7G>A
ENST00000427978.6:c.24+7G>A	ENSP00000407492.1:n.24+7G>A
ENST00000595519.5:c.24+7G>A	ENSP00000469893.1:n.24+7G>A
ENST00000596338.5:n.59+7G>A
ENST00000598502.5:c.24+7G>A	ENSP00000470229.1:n.24+7G>A
ENST00000598691.5:c.24+7G>A	ENSP00000473231.1:n.24+7G>A
ENST00000598697.5:c.24+7G>A	ENSP00000468989.1:n.24+7G>A
ENST00000599628.5:c.24+7G>A	ENSP00000483753.1:n.24+7G>A
NM_001195227.1:c.24+7G>A	NP_001182156.1:n.24+7G>A
NM_017636.3:c.24+7G>A	NP_060106.2:n.24+7G>A
XM_011527046.1:c.-143+7G>A	XP_011525348.1:n.-143+7G>A
NM_001321281.1:c.24+7G>A	NP_001308210.1:n.24+7G>A
NM_001321282.1:c.-1349+7G>A	NP_001308211.1:n.-1349+7G>A
NM_001321283.1:c.-143+7G>A	NP_001308212.1:n.-143+7G>A
NM_001321285.1:c.-306+7G>A	NP_001308214.1:n.-306+7G>A
NM_017636.4:c.24+7G>A MANE Select	NP_060106.2:n.24+7G>A
NM_001195227.2:c.24+7G>A	NP_001182156.1:n.24+7G>A
NM_001321281.2:c.24+7G>A	NP_001308210.1:n.24+7G>A
NM_001321282.2:c.-1349+7G>A	NP_001308211.1:n.-1349+7G>A
NM_001321283.2:c.-143+7G>A	NP_001308212.1:n.-143+7G>A
NM_001321285.2:c.-306+7G>A	NP_001308214.1:n.-306+7G>A