Canonical Allele Identifier: CA9449011

Gene: LTBP4

Linked Data

• ClinVar Variation Id: 721946
• ClinVar RCV Id: RCV000895524
• dbSNP Id: rs371603120
• ExAC: 19:41128565 C / T
• gnomAD v2: 19-41128565-C-T
• gnomAD v3: 19-40622660-C-T
• gnomAD v4: 19-40622660-C-T
• MyVariant Identifiers: chr19:g.41128565C>T (hg19) ; chr19:g.40622660C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40622660C>T , CM000681.2:g.40622660C>T	GRCh38
NC_000019.9:g.41128565C>T , CM000681.1:g.41128565C>T	GRCh37
NC_000019.8:g.45820405C>T	NCBI36
NG_021201.1:g.34495C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396819.8:c.3477C>T MANE Select	ENSP00000380031.5:p.Thr1159=
ENST00000204005.13:c.3567C>T	ENSP00000204005.10:p.Thr1189=
ENST00000243562.13:c.1676C>T
ENST00000308370.11:c.3678C>T	ENSP00000311905.8:p.Thr1226=
ENST00000318809.11:n.484-944C>T
ENST00000396819.7:c.3477C>T	ENSP00000380031.4:p.Thr1159=
ENST00000593463.5:c.535-944C>T
ENST00000594116.1:n.273C>T
ENST00000595118.5:n.982C>T
ENST00000595665.1:n.535-944C>T
ENST00000597816.5:n.453-944C>T
ENST00000599724.5:c.485-944C>T	ENSP00000469785.1:n.485-944C>T
ENST00000601032.5:c.1114C>T
ENST00000622107.4:n.545-944C>T
ENST00000622457.1:c.385-944C>T
ENST00000622565.4:n.727-944C>T
NM_001042544.1:c.3678C>T	NP_001036009.1:p.Thr1226=
NM_001042545.1:c.3477C>T	NP_001036010.1:p.Thr1159=
NM_003573.2:c.3567C>T	NP_003564.2:p.Thr1189=
XM_011527376.1:c.3792C>T	XP_011525678.1:p.Thr1264=
XM_011527377.1:c.3711C>T	XP_011525679.1:p.Thr1237=
XM_011527378.1:c.3711C>T	XP_011525680.1:p.Thr1237=
XM_011527379.1:c.3591C>T	XP_011525681.1:p.Thr1197=
XM_011527380.1:c.3585C>T	XP_011525682.1:p.Thr1195=
XM_011527381.1:c.3585C>T	XP_011525683.1:p.Thr1195=
XM_011527382.1:c.3468C>T	XP_011525684.1:p.Thr1156=
XM_011527383.1:c.3452-944C>T	XP_011525685.1:n.3452-944C>T
XM_011527384.1:c.3326-944C>T	XP_011525686.1:n.3326-944C>T
XM_011527385.1:c.3320-944C>T	XP_011525687.1:n.3320-944C>T
XM_011527386.1:c.3194-944C>T	XP_011525688.1:n.3194-944C>T
XM_011527387.1:c.3069C>T	XP_011525689.1:p.Thr1023=
XM_011527376.2:c.3792C>T	XP_011525678.1:p.Thr1264=
XM_011527377.2:c.3711C>T	XP_011525679.1:p.Thr1237=
XM_011527378.2:c.3711C>T	XP_011525680.1:p.Thr1237=
XM_011527380.2:c.3585C>T	XP_011525682.1:p.Thr1195=
XM_011527381.2:c.3585C>T	XP_011525683.1:p.Thr1195=
XM_011527382.2:c.3468C>T	XP_011525684.1:p.Thr1156=
XM_011527383.2:c.3452-944C>T	XP_011525685.1:n.3452-944C>T
XM_011527384.2:c.3326-944C>T	XP_011525686.1:n.3326-944C>T
XM_011527385.2:c.3320-944C>T	XP_011525687.1:n.3320-944C>T
XM_011527386.2:c.3194-944C>T	XP_011525688.1:n.3194-944C>T
XM_017027352.1:c.3579C>T	XP_016882841.1:p.Thr1193=
XM_017027353.1:c.3453C>T	XP_016882842.1:p.Thr1151=
XM_017027354.1:c.3200-944C>T	XP_016882843.1:n.3200-944C>T
NM_001042545.2:c.3477C>T MANE Select	NP_001036010.1:p.Thr1159=