Canonical Allele Identifier: CA2168928
Gene: TIGD1 HGNC NCBI
CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 335010
ClinVar RCV Id: RCV000284054 RCV000922574 RCV001094666
dbSNP Id: rs761581720
ExAC: 2:233409115 C / T
gnomAD v2: 2-233409115-C-T
gnomAD v3: 2-232544405-C-T
gnomAD v4: 2-232544405-C-T
MyVariant Identifiers: chr2:g.233409115C>T (hg19) chr2:g.232544405C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232544405C>T , CM000664.2:g.232544405C>T GRCh38
NC_000002.11:g.233409115C>T , CM000664.1:g.233409115C>T GRCh37
NC_000002.10:g.233117359C>T NCBI36
NG_012954.1:g.9679C>T
NG_012954.2:g.9714C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000408957.7:c.*3702G>A (TIGD1) MANE Select ENSP00000386186.3:n.*3702G>A
ENST00000651502.1:c.1074C>T (CHRNG) MANE Select ENSP00000498757.1:p.His358=
ENST00000389492.3:c.918C>T (CHRNG) ENSP00000374143.3:p.His306=
ENST00000389494.7:c.1074C>T (CHRNG) ENSP00000374145.3:p.His358=
NM_005199.4:c.1074C>T (CHRNG) NP_005190.4:p.His358=
NM_005199.5:c.1074C>T (CHRNG) MANE Select NP_005190.4:p.His358=
NM_145702.4:c.*3702G>A (TIGD1) MANE Select NP_663748.1:n.*3702G>A
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