Canonical Allele Identifier: CA2589050099

Gene: SFR1

Linked Data

• dbSNP Id: rs2134706658
• gnomAD v3: 10-104124443-G-T
• gnomAD v4: 10-104124443-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104124443G>T , CM000672.2:g.104124443G>T	GRCh38
NC_000010.10:g.105884201G>T , CM000672.1:g.105884201G>T	GRCh37
NC_000010.9:g.105874191G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369727.4:c.546+319G>T MANE Select	ENSP00000358742.3:n.546+319G>T
ENST00000369727.3:c.546+319G>T	ENSP00000358742.3:n.546+319G>T
ENST00000369729.7:c.507+319G>T	ENSP00000358744.3:n.507+319G>T
NM_001002759.1:c.546+319G>T	NP_001002759.1:n.546+319G>T
NM_145247.4:c.507+319G>T	NP_660290.3:n.507+319G>T
XM_005269521.2:c.732+319G>T	XP_005269578.1:n.732+319G>T
XM_005269521.3:c.732+319G>T	XP_005269578.1:n.732+319G>T
XM_017015672.1:c.507+319G>T	XP_016871161.1:n.507+319G>T
NM_001002759.2:c.546+319G>T MANE Select	NP_001002759.1:n.546+319G>T
NM_001384829.1:c.507+319G>T	NP_001371758.1:n.507+319G>T
NM_001384830.1:c.507+319G>T	NP_001371759.1:n.507+319G>T
NM_145247.5:c.507+319G>T	NP_660290.3:n.507+319G>T