Canonical Allele Identifier: CA9569575

Gene: TRPM4

Linked Data

• ClinVar Variation Id: 381691
• ClinVar RCV Id: RCV000538303 ; RCV002429383 ; RCV001703669 ; RCV003488591 ; RCV004533001 ; RCV003318376
• dbSNP Id: rs172155862
• ExAC: 19:49700047 A / G
• gnomAD v2: 19-49700047-A-G
• gnomAD v3: 19-49196790-A-G
• gnomAD v4: 19-49196790-A-G
• MyVariant Identifiers: chr19:g.49700047A>G (hg19) ; chr19:g.49196790A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49196790A>G , CM000681.2:g.49196790A>G	GRCh38
NC_000019.9:g.49700047A>G , CM000681.1:g.49700047A>G	GRCh37
NC_000019.8:g.54391859A>G	NCBI36
NG_027551.1:g.44032A>G
NG_027551.2:g.44032A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252826.10:c.2561A>G MANE Select	ENSP00000252826.4:p.Gln854Arg
ENST00000252826.9:c.2561A>G	ENSP00000252826.4:p.Gln854Arg
ENST00000427978.6:c.2211-3510A>G	ENSP00000407492.1:n.2211-3510A>G
ENST00000595071.5:n.1525A>G
ENST00000595519.5:c.*1971A>G	ENSP00000469893.1:n.*1971A>G
ENST00000596338.5:n.2658A>G
ENST00000598502.5:c.*1674A>G	ENSP00000470229.1:n.*1674A>G
ENST00000598697.5:c.*1516A>G	ENSP00000468989.1:n.*1516A>G
NM_001195227.1:c.2211-3510A>G	NP_001182156.1:n.2211-3510A>G
NM_017636.3:c.2561A>G	NP_060106.2:p.Gln854Arg
XM_005259017.1:c.1274A>G	XP_005259074.1:p.Gln425Arg
XM_005259018.2:c.953A>G	XP_005259075.1:p.Gln318Arg
XM_011527046.1:c.2039A>G	XP_011525348.1:p.Gln680Arg
NM_001321281.1:c.2216A>G	NP_001308210.1:p.Gln739Arg
NM_001321282.1:c.953A>G	NP_001308211.1:p.Gln318Arg
NM_001321283.1:c.2039A>G	NP_001308212.1:p.Gln680Arg
NM_001321285.1:c.1499A>G	NP_001308214.1:p.Gln500Arg
XM_024451557.1:c.587A>G	XP_024307325.1:p.Gln196Arg
NM_017636.4:c.2561A>G MANE Select	NP_060106.2:p.Gln854Arg
NM_001195227.2:c.2211-3510A>G	NP_001182156.1:n.2211-3510A>G
NM_001321281.2:c.2216A>G	NP_001308210.1:p.Gln739Arg
NM_001321282.2:c.953A>G	NP_001308211.1:p.Gln318Arg
NM_001321283.2:c.2039A>G	NP_001308212.1:p.Gln680Arg
NM_001321285.2:c.1499A>G	NP_001308214.1:p.Gln500Arg