Canonical Allele Identifier: CA3324023

Gene: THBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80059799C>T , CM000667.2:g.80059799C>T	GRCh38
NC_000005.9:g.79355622C>T , CM000667.1:g.79355622C>T	GRCh37
NC_000005.8:g.79391378C>T	NCBI36
NG_047084.1:g.73489C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003248.6:c.881C>T MANE Select	NP_003239.2:p.Pro294Leu
ENST00000350881.6:c.881C>T MANE Select	ENSP00000339730.2:p.Pro294Leu
NM_001306212.1:c.608C>T	NP_001293141.1:p.Pro203Leu
NM_001306212.2:c.608C>T	NP_001293141.1:p.Pro203Leu
NM_001306213.1:c.608C>T	NP_001293142.1:p.Pro203Leu
NM_001306213.2:c.608C>T	NP_001293142.1:p.Pro203Leu
NM_001306214.1:c.608C>T	NP_001293143.1:p.Pro203Leu
NM_001306214.2:c.608C>T	NP_001293143.1:p.Pro203Leu
NM_003248.4:c.881C>T	NP_003239.2:p.Pro294Leu
NM_003248.5:c.881C>T	NP_003239.2:p.Pro294Leu
ENST00000511733.1:c.608C>T	ENSP00000422298.1:p.Pro203Leu
XM_017009798.2:c.881C>T	XP_016865287.1:p.Pro294Leu
XM_017009799.2:c.881C>T	XP_016865288.1:p.Pro294Leu
XR_002956176.1:n.1072C>T