Canonical Allele Identifier: CA2663623103
Gene: TIGD1 HGNC NCBI
CHRNG HGNC NCBI

Linked Data

gnomAD v4: 2-232545850-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232545850C>A , CM000664.2:g.232545850C>A GRCh38
NC_000002.11:g.233410560C>A , CM000664.1:g.233410560C>A GRCh37
NC_000002.10:g.233118804C>A NCBI36
NG_012954.1:g.11124C>A
NG_012954.2:g.11159C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000408957.7:c.*2257G>T (TIGD1) MANE Select ENSP00000386186.3:n.*2257G>T
ENST00000651502.1:c.*134C>A (CHRNG) MANE Select ENSP00000498757.1:n.*134C>A
ENST00000389494.7:c.*134C>A (CHRNG) ENSP00000374145.3:n.*134C>A
NM_005199.4:c.*134C>A (CHRNG) NP_005190.4:n.*134C>A
NM_005199.5:c.*134C>A (CHRNG) MANE Select NP_005190.4:n.*134C>A
NM_145702.4:c.*2257G>T (TIGD1) MANE Select NP_663748.1:n.*2257G>T
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