Canonical Allele Identifier: CA2663623089
Gene: TIGD1 HGNC NCBI
CHRNG HGNC NCBI

Linked Data

gnomAD v4: 2-232545845-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232545845A>C , CM000664.2:g.232545845A>C GRCh38
NC_000002.11:g.233410555A>C , CM000664.1:g.233410555A>C GRCh37
NC_000002.10:g.233118799A>C NCBI36
NG_012954.1:g.11119A>C
NG_012954.2:g.11154A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000408957.7:c.*2262T>G (TIGD1) MANE Select ENSP00000386186.3:n.*2262T>G
ENST00000651502.1:c.*129A>C (CHRNG) MANE Select ENSP00000498757.1:n.*129A>C
ENST00000389494.7:c.*129A>C (CHRNG) ENSP00000374145.3:n.*129A>C
NM_005199.4:c.*129A>C (CHRNG) NP_005190.4:n.*129A>C
NM_005199.5:c.*129A>C (CHRNG) MANE Select NP_005190.4:n.*129A>C
NM_145702.4:c.*2262T>G (TIGD1) MANE Select NP_663748.1:n.*2262T>G
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