Canonical Allele Identifier: CA1933463612

Gene: SFR1

Linked Data

• dbSNP Id: rs2087001361
• gnomAD v4: 10-104124198-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104124198A>T , CM000672.2:g.104124198A>T	GRCh38
NC_000010.10:g.105883956A>T , CM000672.1:g.105883956A>T	GRCh37
NC_000010.9:g.105873946A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369727.4:c.546+74A>T MANE Select	ENSP00000358742.3:n.546+74A>T
ENST00000369727.3:c.546+74A>T	ENSP00000358742.3:n.546+74A>T
ENST00000369729.7:c.507+74A>T	ENSP00000358744.3:n.507+74A>T
NM_001002759.1:c.546+74A>T	NP_001002759.1:n.546+74A>T
NM_145247.4:c.507+74A>T	NP_660290.3:n.507+74A>T
XM_005269521.2:c.732+74A>T	XP_005269578.1:n.732+74A>T
XM_005269521.3:c.732+74A>T	XP_005269578.1:n.732+74A>T
XM_017015672.1:c.507+74A>T	XP_016871161.1:n.507+74A>T
NM_001002759.2:c.546+74A>T MANE Select	NP_001002759.1:n.546+74A>T
NM_001384829.1:c.507+74A>T	NP_001371758.1:n.507+74A>T
NM_001384830.1:c.507+74A>T	NP_001371759.1:n.507+74A>T
NM_145247.5:c.507+74A>T	NP_660290.3:n.507+74A>T