Canonical Allele Identifier: CA1166742485

Gene: BTF3L4

Linked Data

• dbSNP Id: rs1572029342
• gnomAD v3: 1-52077034-G-A
• gnomAD v4: 1-52077034-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.52077034G>A , CM000663.2:g.52077034G>A	GRCh38
NC_000001.10:g.52542706G>A , CM000663.1:g.52542706G>A	GRCh37
NC_000001.9:g.52315294G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313334.13:c.169-6306G>A MANE Select	ENSP00000360664.4:n.169-6306G>A
ENST00000313334.12:c.169-6306G>A	ENSP00000360664.4:n.169-6306G>A
ENST00000472944.6:c.-6-6306G>A	ENSP00000436712.1:n.-6-6306G>A
ENST00000477828.6:c.*236-6306G>A	ENSP00000434611.1:n.*236-6306G>A
ENST00000484036.1:c.169-6306G>A	ENSP00000433418.1:n.169-6306G>A
ENST00000489308.6:c.169-9078G>A	ENSP00000434824.1:n.169-9078G>A
ENST00000526132.5:n.345-9078G>A
ENST00000533836.1:n.407+5707G>A
NM_001136497.2:c.-6-6306G>A	NP_001129969.1:n.-6-6306G>A
NM_001243767.1:c.169-9078G>A	NP_001230696.1:n.169-9078G>A
NM_152265.4:c.169-6306G>A	NP_689478.1:n.169-6306G>A
NM_152265.5:c.169-6306G>A MANE Select	NP_689478.1:n.169-6306G>A
NM_001136497.3:c.-6-6306G>A	NP_001129969.1:n.-6-6306G>A
NM_001243767.2:c.169-9078G>A	NP_001230696.1:n.169-9078G>A