Canonical Allele Identifier: CA466759047

Gene: PRPF4

Linked Data

• gnomAD v4: 9-113288250-C-T
• MyVariant Identifiers: chr9:g.116050530C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113288250C>T , CM000671.2:g.113288250C>T	GRCh38
NC_000009.11:g.116050530C>T , CM000671.1:g.116050530C>T	GRCh37
NC_000009.10:g.115090351C>T	NCBI36
NG_034225.1:g.17617C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374198.5:c.1008C>T MANE Select	ENSP00000363313.4:p.Phe336=
ENST00000374199.9:c.1011C>T	ENSP00000363315.4:p.Phe337=
ENST00000374198.4:c.1011C>T	ENSP00000363313.3:p.Phe337=
ENST00000374199.8:c.1008C>T	ENSP00000363315.3:p.Phe336=
NM_001244926.1:c.1008C>T	NP_001231855.1:p.Phe336=
NM_004697.4:c.1011C>T	NP_004688.2:p.Phe337=
XM_005252300.2:c.282C>T	XP_005252357.1:p.Phe94=
XM_011519181.1:c.1011C>T	XP_011517483.1:p.Phe337=
NM_001322266.1:c.282C>T	NP_001309195.1:p.Phe94=
NM_001322267.1:c.282C>T	NP_001309196.1:p.Phe94=
NR_136265.1:n.1121C>T
NR_136266.1:n.1118C>T
NM_001244926.2:c.1008C>T MANE Select	NP_001231855.1:p.Phe336=
NM_001322266.2:c.282C>T	NP_001309195.1:p.Phe94=
NM_001322267.2:c.282C>T	NP_001309196.1:p.Phe94=
NM_004697.5:c.1011C>T	NP_004688.2:p.Phe337=
NR_136265.2:n.1097C>T
NR_136266.2:n.1094C>T