Canonical Allele Identifier: CA2671079128

Gene: FAM47E FAM47E-STBD1

Linked Data

• gnomAD v4: 4-76278002-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76278002T>C , CM000666.2:g.76278002T>C	GRCh38
NC_000004.11:g.77199155T>C , CM000666.1:g.77199155T>C	GRCh37
NC_000004.10:g.77418179T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424749.7:c.871-67T>C (FAM47E) MANE Select	ENSP00000409423.2:n.871-67T>C
ENST00000651133.1:c.*253+6234T>C (FAM47E-STBD1)	ENSP00000498232.1:n.*253+6234T>C
ENST00000424749.6:c.871-67T>C (FAM47E)	ENSP00000409423.2:n.871-67T>C
ENST00000502320.2:n.539-67T>C (FAM47E)
ENST00000509377.1:c.*407+6234T>C (FAM47E-STBD1)	ENSP00000425528.2:n.*407+6234T>C
ENST00000510197.5:c.577-67T>C (FAM47E)	ENSP00000422262.1:n.577-67T>C
ENST00000510328.5:n.416-67T>C (FAM47E)
ENST00000514140.1:c.387+6234T>C (FAM47E-STBD1)	ENSP00000423044.2:n.387+6234T>C
ENST00000514365.5:c.*52+14159T>C (FAM47E-STBD1)	ENSP00000424458.1:n.*52+14159T>C
ENST00000515604.5:c.871-67T>C (FAM47E-STBD1)	ENSP00000422067.1:n.871-67T>C
NM_001136570.2:c.871-67T>C (FAM47E)	NP_001130042.1:n.871-67T>C
NM_001242936.1:c.577-67T>C (FAM47E)	NP_001229865.1:n.577-67T>C
NM_001242939.1:c.871-67T>C (FAM47E-STBD1)	NP_001229868.1:n.871-67T>C
XR_001741406.1:n.203-15750A>G
XR_001741407.1:n.203-15750A>G
NM_001136570.3:c.871-67T>C (FAM47E) MANE Select	NP_001130042.1:n.871-67T>C
NM_001242939.2:c.871-67T>C (FAM47E-STBD1)	NP_001229868.1:n.871-67T>C