Canonical Allele Identifier: CA10614596
Gene: TIGD1 HGNC NCBI
CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 335017
ClinVar RCV Id: RCV000295406 RCV001094721
dbSNP Id: rs11690038
gnomAD v2: 2-233410503-T-C
gnomAD v3: 2-232545793-T-C
gnomAD v4: 2-232545793-T-C
COSMIC: COSN166434 COSN5270224
MyVariant Identifiers: chr2:g.233410503T>C (hg19) chr2:g.232545793T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232545793T>C , CM000664.2:g.232545793T>C GRCh38
NC_000002.11:g.233410503T>C , CM000664.1:g.233410503T>C GRCh37
NC_000002.10:g.233118747T>C NCBI36
NG_012954.1:g.11067T>C
NG_012954.2:g.11102T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000408957.7:c.*2314A>G (TIGD1) MANE Select ENSP00000386186.3:n.*2314A>G
ENST00000651502.1:c.*77T>C (CHRNG) MANE Select ENSP00000498757.1:n.*77T>C
ENST00000389494.7:c.*77T>C (CHRNG) ENSP00000374145.3:n.*77T>C
NM_005199.4:c.*77T>C (CHRNG) NP_005190.4:n.*77T>C
NM_005199.5:c.*77T>C (CHRNG) MANE Select NP_005190.4:n.*77T>C
NM_145702.4:c.*2314A>G (TIGD1) MANE Select NP_663748.1:n.*2314A>G
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