Canonical Allele Identifier: CA250715

Gene: TRPM4

Linked Data

• ClinVar Variation Id: 35486
• ClinVar RCV Id: RCV000029158 ; RCV000208117 ; RCV001090742 ; RCV000990241 ; RCV002399335
• dbSNP Id: rs172149856
• ExAC: 19:49691898 G / A
• gnomAD v2: 19-49691898-G-A
• gnomAD v3: 19-49188641-G-A
• gnomAD v4: 19-49188641-G-A
• MyVariant Identifiers: chr19:g.49691898G>A (hg19) ; chr19:g.49188641G>A (hg38)
• PubMed: PMID:21887725

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49188641G>A , CM000681.2:g.49188641G>A	GRCh38
NC_000019.9:g.49691898G>A , CM000681.1:g.49691898G>A	GRCh37
NC_000019.8:g.54383710G>A	NCBI36
NG_027551.1:g.35883G>A
NG_027551.2:g.35883G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252826.10:c.1744G>A MANE Select	ENSP00000252826.4:p.Gly582Ser
ENST00000252826.9:c.1744G>A	ENSP00000252826.4:p.Gly582Ser
ENST00000427978.6:c.1744G>A	ENSP00000407492.1:p.Gly582Ser
ENST00000595071.5:n.533G>A
ENST00000595519.5:c.*1154G>A	ENSP00000469893.1:n.*1154G>A
ENST00000596338.5:n.1666G>A
ENST00000598502.5:c.*857G>A	ENSP00000470229.1:n.*857G>A
ENST00000598697.5:c.*699G>A	ENSP00000468989.1:n.*699G>A
NM_001195227.1:c.1744G>A	NP_001182156.1:p.Gly582Ser
NM_017636.3:c.1744G>A	NP_060106.2:p.Gly582Ser
XM_005259017.1:c.457G>A	XP_005259074.1:p.Gly153Ser
XM_005259018.2:c.136G>A	XP_005259075.1:p.Gly46Ser
XM_011527046.1:c.1222G>A	XP_011525348.1:p.Gly408Ser
NM_001321281.1:c.1399G>A	NP_001308210.1:p.Gly467Ser
NM_001321282.1:c.136G>A	NP_001308211.1:p.Gly46Ser
NM_001321283.1:c.1222G>A	NP_001308212.1:p.Gly408Ser
NM_001321285.1:c.682G>A	NP_001308214.1:p.Gly228Ser
XM_024451557.1:c.-406G>A	XP_024307325.1:n.-406G>A
NM_017636.4:c.1744G>A MANE Select	NP_060106.2:p.Gly582Ser
NM_001195227.2:c.1744G>A	NP_001182156.1:p.Gly582Ser
NM_001321281.2:c.1399G>A	NP_001308210.1:p.Gly467Ser
NM_001321282.2:c.136G>A	NP_001308211.1:p.Gly46Ser
NM_001321283.2:c.1222G>A	NP_001308212.1:p.Gly408Ser
NM_001321285.2:c.682G>A	NP_001308214.1:p.Gly228Ser