Canonical Allele Identifier: CA052792

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 382350
• ClinVar RCV Id: RCV002436273 ; RCV003532103
• dbSNP Id: rs754747623
• ExAC: 3:14166692 C / T
• gnomAD v2: 3-14166692-C-T
• gnomAD v3: 3-14125192-C-T
• gnomAD v4: 3-14125192-C-T
• MyVariant Identifiers: chr3:g.14166692C>T (hg19) ; chr3:g.14125192C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14125192C>T , CM000665.2:g.14125192C>T	GRCh38
NC_000003.11:g.14166692C>T , CM000665.1:g.14166692C>T	GRCh37
NC_000003.10:g.14141693C>T	NCBI36
NG_008975.1:g.5253C>T , LRG_435:g.5253C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.-2C>T	ENSP00000395617.1:n.-2C>T
ENST00000306077.5:c.-2C>T MANE Select	ENSP00000303992.5:n.-2C>T
ENST00000306077.4:c.-2C>T	ENSP00000303992.4:n.-2C>T
ENST00000432444.1:c.-2C>T	ENSP00000395617.1:n.-2C>T
NM_024334.2:c.-2C>T , LRG_435t1:c.-2C>T	NP_077310.1:n.-2C>T
XM_017007176.2:c.-338C>T	XP_016862665.1:n.-338C>T
NM_024334.3:c.-2C>T MANE Select	NP_077310.1:n.-2C>T