Canonical Allele Identifier: CA4248043

Gene: TBRG4

Linked Data

• ClinVar Variation Id: 2204508
• ClinVar RCV Id: RCV004069332
• dbSNP Id: rs150894684
• ExAC: 7:45143011 A / G
• gnomAD v2: 7-45143011-A-G
• gnomAD v3: 7-45103412-A-G
• gnomAD v4: 7-45103412-A-G
• MyVariant Identifiers: chr7:g.45143011A>G (hg19) ; chr7:g.45103412A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45103412A>G , CM000669.2:g.45103412A>G	GRCh38
NC_000007.13:g.45143011A>G , CM000669.1:g.45143011A>G	GRCh37
NC_000007.12:g.45109536A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258770.8:c.1097T>C MANE Select	ENSP00000258770.3:p.Leu366Pro
ENST00000258770.7:c.1097T>C	ENSP00000258770.3:p.Leu366Pro
ENST00000361278.7:c.767T>C	ENSP00000354992.3:p.Leu256Pro
ENST00000395655.8:c.767T>C	ENSP00000379016.4:p.Leu256Pro
ENST00000483615.1:c.174T>C
ENST00000488222.5:n.591T>C
ENST00000494076.5:c.1097T>C	ENSP00000420597.1:p.Leu366Pro
ENST00000495973.5:n.2386T>C
NM_001261834.1:c.1130T>C	NP_001248763.1:p.Leu377Pro
NM_004749.3:c.1097T>C	NP_004740.2:p.Leu366Pro
NM_030900.3:c.767T>C	NP_112162.1:p.Leu256Pro
NM_199122.2:c.767T>C	NP_954573.1:p.Leu256Pro
NM_004749.4:c.1097T>C MANE Select	NP_004740.2:p.Leu366Pro
NM_001261834.2:c.1130T>C	NP_001248763.1:p.Leu377Pro
NM_030900.4:c.767T>C	NP_112162.1:p.Leu256Pro
NM_199122.3:c.767T>C	NP_954573.1:p.Leu256Pro