Canonical Allele Identifier: CA2663623121
Gene: TIGD1 HGNC NCBI
CHRNG HGNC NCBI

Linked Data

gnomAD v4: 2-232545861-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232545861G>T , CM000664.2:g.232545861G>T GRCh38
NC_000002.11:g.233410571G>T , CM000664.1:g.233410571G>T GRCh37
NC_000002.10:g.233118815G>T NCBI36
NG_012954.1:g.11135G>T
NG_012954.2:g.11170G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000408957.7:c.*2246C>A (TIGD1) MANE Select ENSP00000386186.3:n.*2246C>A
ENST00000651502.1:c.*145G>T (CHRNG) MANE Select ENSP00000498757.1:n.*145G>T
ENST00000389494.7:c.*145G>T (CHRNG) ENSP00000374145.3:n.*145G>T
NM_005199.4:c.*145G>T (CHRNG) NP_005190.4:n.*145G>T
NM_005199.5:c.*145G>T (CHRNG) MANE Select NP_005190.4:n.*145G>T
NM_145702.4:c.*2246C>A (TIGD1) MANE Select NP_663748.1:n.*2246C>A
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