Canonical Allele Identifier: CA766147654

Gene: TIGD1 CHRNG

Linked Data

• dbSNP Id: rs1420753868
• gnomAD v4: 2-232545867-G-C
• MyVariant Identifiers: chr2:g.233410577G>C (hg19) ; chr2:g.232545867G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232545867G>C , CM000664.2:g.232545867G>C	GRCh38
NC_000002.11:g.233410577G>C , CM000664.1:g.233410577G>C	GRCh37
NC_000002.10:g.233118821G>C	NCBI36
NG_012954.1:g.11141G>C
NG_012954.2:g.11176G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000408957.7:c.*2240C>G (TIGD1) MANE Select	ENSP00000386186.3:n.*2240C>G
ENST00000651502.1:c.*151G>C (CHRNG) MANE Select	ENSP00000498757.1:n.*151G>C
ENST00000389494.7:c.*151G>C (CHRNG)	ENSP00000374145.3:n.*151G>C
NM_005199.4:c.*151G>C (CHRNG)	NP_005190.4:n.*151G>C
NM_005199.5:c.*151G>C (CHRNG) MANE Select	NP_005190.4:n.*151G>C
NM_145702.4:c.*2240C>G (TIGD1) MANE Select	NP_663748.1:n.*2240C>G