Canonical Allele Identifier: CA168351198

Gene: TMEM178B

Linked Data

• dbSNP Id: rs16882396
• gnomAD v2: 7-140888321-C-G
• gnomAD v3: 7-141188521-C-G
• gnomAD v4: 7-141188521-C-G
• MyVariant Identifiers: chr7:g.140888321C>G (hg19) ; chr7:g.141188521C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.141188521C>G , CM000669.2:g.141188521C>G	GRCh38
NC_000007.13:g.140888321C>G , CM000669.1:g.140888321C>G	GRCh37
NC_000007.12:g.140534790C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000565468.6:c.383-24070C>G MANE Select	ENSP00000456594.1:n.383-24070C>G
ENST00000563442.1:n.301-24070C>G
ENST00000565468.5:c.383-24070C>G	ENSP00000456594.1:n.383-24070C>G
ENST00000610315.1:c.383-24070C>G	ENSP00000484025.1:n.383-24070C>G
NM_001195278.1:c.383-24070C>G	NP_001182207.1:n.383-24070C>G
XM_011515705.1:c.383-24070C>G	XP_011514007.1:n.383-24070C>G
XR_927317.1:n.1383-24070C>G
XM_011515705.2:c.383-24070C>G	XP_011514007.1:n.383-24070C>G
XM_017011636.1:c.383-24070C>G	XP_016867125.1:n.383-24070C>G
XR_001744505.1:n.1286-24070C>G
NM_001195278.2:c.383-24070C>G MANE Select	NP_001182207.1:n.383-24070C>G