Canonical Allele Identifier: CA367425640

Gene: TBRG4

Linked Data

• ClinVar Variation Id: 3174908
• ClinVar RCV Id: RCV004474256
• gnomAD v4: 7-45101537-T-C
• MyVariant Identifiers: chr7:g.45141136T>C (hg19) ; chr7:g.45101537T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45101537T>C , CM000669.2:g.45101537T>C	GRCh38
NC_000007.13:g.45141136T>C , CM000669.1:g.45141136T>C	GRCh37
NC_000007.12:g.45107661T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258770.8:c.1645A>G MANE Select	ENSP00000258770.3:p.Thr549Ala
ENST00000258770.7:c.1645A>G	ENSP00000258770.3:p.Thr549Ala
ENST00000361278.7:c.1315A>G	ENSP00000354992.3:p.Thr439Ala
ENST00000395655.8:c.1315A>G	ENSP00000379016.4:p.Thr439Ala
ENST00000483615.1:c.788A>G
ENST00000494076.5:c.1645A>G	ENSP00000420597.1:p.Thr549Ala
ENST00000495973.5:n.2934A>G
NM_001261834.1:c.1678A>G	NP_001248763.1:p.Thr560Ala
NM_004749.3:c.1645A>G	NP_004740.2:p.Thr549Ala
NM_030900.3:c.1315A>G	NP_112162.1:p.Thr439Ala
NM_199122.2:c.1315A>G	NP_954573.1:p.Thr439Ala
NM_004749.4:c.1645A>G MANE Select	NP_004740.2:p.Thr549Ala
NM_001261834.2:c.1678A>G	NP_001248763.1:p.Thr560Ala
NM_030900.4:c.1315A>G	NP_112162.1:p.Thr439Ala
NM_199122.3:c.1315A>G	NP_954573.1:p.Thr439Ala