Canonical Allele Identifier: CA053980

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 264209
• ClinVar RCV Id: RCV000251946 ; RCV001178589 ; RCV001194112
• dbSNP Id: rs760598925
• ExAC: 3:14166690 C / T
• gnomAD v2: 3-14166690-C-T
• gnomAD v3: 3-14125190-C-T
• gnomAD v4: 3-14125190-C-T
• MyVariant Identifiers: chr3:g.14166690C>T (hg19) ; chr3:g.14125190C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14125190C>T , CM000665.2:g.14125190C>T	GRCh38
NC_000003.11:g.14166690C>T , CM000665.1:g.14166690C>T	GRCh37
NC_000003.10:g.14141691C>T	NCBI36
NG_008975.1:g.5251C>T , LRG_435:g.5251C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.-4C>T	ENSP00000395617.1:n.-4C>T
ENST00000306077.5:c.-4C>T MANE Select	ENSP00000303992.5:n.-4C>T
ENST00000306077.4:c.-4C>T	ENSP00000303992.4:n.-4C>T
ENST00000432444.1:c.-4C>T	ENSP00000395617.1:n.-4C>T
NM_024334.2:c.-4C>T , LRG_435t1:c.-4C>T	NP_077310.1:n.-4C>T
XM_017007176.2:c.-340C>T	XP_016862665.1:n.-340C>T
NM_024334.3:c.-4C>T MANE Select	NP_077310.1:n.-4C>T