Canonical Allele Identifier: CA351536638

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 937703
• ClinVar RCV Id: RCV001206778 ; RCV001823765
• dbSNP Id: rs1430520295
• gnomAD v4: 3-14141748-C-T
• MyVariant Identifiers: chr3:g.14183248C>T (hg19) ; chr3:g.14141748C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141748C>T , CM000665.2:g.14141748C>T	GRCh38
NC_000003.11:g.14183248C>T , CM000665.1:g.14183248C>T	GRCh37
NC_000003.10:g.14158249C>T	NCBI36
NG_008975.1:g.21809C>T , LRG_435:g.21809C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*1186C>T	ENSP00000395617.1:n.*1186C>T
ENST00000306077.5:c.1156C>T MANE Select	ENSP00000303992.5:p.Pro386Ser
ENST00000306077.4:c.1156C>T	ENSP00000303992.4:p.Pro386Ser
ENST00000601399.3:n.327+2451C>T
ENST00000608606.1:c.236+2451C>T
ENST00000626721.1:n.21C>T
NM_024334.2:c.1156C>T , LRG_435t1:c.1156C>T	NP_077310.1:p.Pro386Ser
XM_011534109.1:c.1051C>T	XP_011532411.1:p.Pro351Ser
XM_017007176.2:c.1051C>T	XP_016862665.1:p.Pro351Ser
NM_024334.3:c.1156C>T MANE Select	NP_077310.1:p.Pro386Ser