Canonical Allele Identifier: CA1335319127

Gene: TIGD1 CHRNG

Linked Data

• dbSNP Id: rs1692123464
• gnomAD v4: 2-232545865-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232545865G>C , CM000664.2:g.232545865G>C	GRCh38
NC_000002.11:g.233410575G>C , CM000664.1:g.233410575G>C	GRCh37
NC_000002.10:g.233118819G>C	NCBI36
NG_012954.1:g.11139G>C
NG_012954.2:g.11174G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000408957.7:c.*2242C>G (TIGD1) MANE Select	ENSP00000386186.3:n.*2242C>G
ENST00000651502.1:c.*149G>C (CHRNG) MANE Select	ENSP00000498757.1:n.*149G>C
ENST00000389494.7:c.*149G>C (CHRNG)	ENSP00000374145.3:n.*149G>C
NM_005199.4:c.*149G>C (CHRNG)	NP_005190.4:n.*149G>C
NM_005199.5:c.*149G>C (CHRNG) MANE Select	NP_005190.4:n.*149G>C
NM_145702.4:c.*2242C>G (TIGD1) MANE Select	NP_663748.1:n.*2242C>G