Canonical Allele Identifier: CA2168943

Gene: TIGD1 CHRNG

Linked Data

• ClinVar Variation Id: 235269
• ClinVar RCV Id: RCV000224861 ; RCV000509333 ; RCV001141631 ; RCV001141632 ; RCV004541362
• dbSNP Id: rs145433186
• ExAC: 2:233409156 C / T
• gnomAD v2: 2-233409156-C-T
• gnomAD v3: 2-232544446-C-T
• gnomAD v4: 2-232544446-C-T
• MyVariant Identifiers: chr2:g.233409156C>T (hg19) ; chr2:g.232544446C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232544446C>T , CM000664.2:g.232544446C>T	GRCh38
NC_000002.11:g.233409156C>T , CM000664.1:g.233409156C>T	GRCh37
NC_000002.10:g.233117400C>T	NCBI36
NG_012954.1:g.9720C>T
NG_012954.2:g.9755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000408957.7:c.*3661G>A (TIGD1) MANE Select	ENSP00000386186.3:n.*3661G>A
ENST00000651502.1:c.1115C>T (CHRNG) MANE Select	ENSP00000498757.1:p.Ser372Phe
ENST00000389492.3:c.959C>T (CHRNG)	ENSP00000374143.3:p.Ser320Phe
ENST00000389494.7:c.1115C>T (CHRNG)	ENSP00000374145.3:p.Ser372Phe
NM_005199.4:c.1115C>T (CHRNG)	NP_005190.4:p.Ser372Phe
NM_005199.5:c.1115C>T (CHRNG) MANE Select	NP_005190.4:p.Ser372Phe
NM_145702.4:c.*3661G>A (TIGD1) MANE Select	NP_663748.1:n.*3661G>A