Canonical Allele Identifier: CA9447957

Gene: LTBP4

Linked Data

• ClinVar Variation Id: 329299
• ClinVar RCV Id: RCV000327917 ; RCV002521232
• dbSNP Id: rs200951126
• ExAC: 19:41105426 G / A
• gnomAD v2: 19-41105426-G-A
• gnomAD v3: 19-40599520-G-A
• gnomAD v4: 19-40599520-G-A
• MyVariant Identifiers: chr19:g.41105426G>A (hg19) ; chr19:g.40599520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40599520G>A , CM000681.2:g.40599520G>A	GRCh38
NC_000019.9:g.41105426G>A , CM000681.1:g.41105426G>A	GRCh37
NC_000019.8:g.45797266G>A	NCBI36
NG_021201.1:g.11355G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000204005.13:c.194G>A	ENSP00000204005.10:p.Arg65Lys
ENST00000308370.11:c.305G>A	ENSP00000311905.8:p.Arg102Lys
ENST00000594537.2:c.*40G>A	ENSP00000480629.1:n.*40G>A
ENST00000599016.5:c.*40G>A	ENSP00000482179.1:n.*40G>A
ENST00000600026.5:c.*40G>A	ENSP00000483230.1:n.*40G>A
NM_001042544.1:c.305G>A	NP_001036009.1:p.Arg102Lys
NM_003573.2:c.194G>A	NP_003564.2:p.Arg65Lys
XM_011527376.1:c.305G>A	XP_011525678.1:p.Arg102Lys
XM_011527377.1:c.338G>A	XP_011525679.1:p.Arg113Lys
XM_011527378.1:c.338G>A	XP_011525680.1:p.Arg113Lys
XM_011527380.1:c.338G>A	XP_011525682.1:p.Arg113Lys
XM_011527381.1:c.338G>A	XP_011525683.1:p.Arg113Lys
XM_011527382.1:c.338G>A	XP_011525684.1:p.Arg113Lys
XM_011527383.1:c.338G>A	XP_011525685.1:p.Arg113Lys
XM_011527384.1:c.338G>A	XP_011525686.1:p.Arg113Lys
XM_011527385.1:c.338G>A	XP_011525687.1:p.Arg113Lys
XM_011527386.1:c.338G>A	XP_011525688.1:p.Arg113Lys
XM_011527387.1:c.-305G>A	XP_011525689.1:n.-305G>A
XM_011527376.2:c.305G>A	XP_011525678.1:p.Arg102Lys
XM_011527377.2:c.338G>A	XP_011525679.1:p.Arg113Lys
XM_011527378.2:c.338G>A	XP_011525680.1:p.Arg113Lys
XM_011527380.2:c.338G>A	XP_011525682.1:p.Arg113Lys
XM_011527381.2:c.338G>A	XP_011525683.1:p.Arg113Lys
XM_011527382.2:c.338G>A	XP_011525684.1:p.Arg113Lys
XM_011527383.2:c.338G>A	XP_011525685.1:p.Arg113Lys
XM_011527384.2:c.338G>A	XP_011525686.1:p.Arg113Lys
XM_011527385.2:c.338G>A	XP_011525687.1:p.Arg113Lys
XM_011527386.2:c.338G>A	XP_011525688.1:p.Arg113Lys
XM_017027352.1:c.338G>A	XP_016882841.1:p.Arg113Lys
XM_017027353.1:c.338G>A	XP_016882842.1:p.Arg113Lys
XM_017027354.1:c.338G>A	XP_016882843.1:p.Arg113Lys