Canonical Allele Identifier: CA2663623136
Gene: TIGD1 HGNC NCBI
CHRNG HGNC NCBI

Linked Data

gnomAD v4: 2-232545867-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232545867G>T , CM000664.2:g.232545867G>T GRCh38
NC_000002.11:g.233410577G>T , CM000664.1:g.233410577G>T GRCh37
NC_000002.10:g.233118821G>T NCBI36
NG_012954.1:g.11141G>T
NG_012954.2:g.11176G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000408957.7:c.*2240C>A (TIGD1) MANE Select ENSP00000386186.3:n.*2240C>A
ENST00000651502.1:c.*151G>T (CHRNG) MANE Select ENSP00000498757.1:n.*151G>T
ENST00000389494.7:c.*151G>T (CHRNG) ENSP00000374145.3:n.*151G>T
NM_005199.4:c.*151G>T (CHRNG) NP_005190.4:n.*151G>T
NM_005199.5:c.*151G>T (CHRNG) MANE Select NP_005190.4:n.*151G>T
NM_145702.4:c.*2240C>A (TIGD1) MANE Select NP_663748.1:n.*2240C>A
Search 100 bp 5'
Search 100 bp 3'