Canonical Allele Identifier: CA212433196

Gene: SFR1

Linked Data

• dbSNP Id: rs368131969
• gnomAD v3: 10-104124418-G-A
• gnomAD v4: 10-104124418-G-A
• MyVariant Identifiers: chr10:g.105884176G>A (hg19) ; chr10:g.104124418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104124418G>A , CM000672.2:g.104124418G>A	GRCh38
NC_000010.10:g.105884176G>A , CM000672.1:g.105884176G>A	GRCh37
NC_000010.9:g.105874166G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369727.4:c.546+294G>A MANE Select	ENSP00000358742.3:n.546+294G>A
ENST00000369727.3:c.546+294G>A	ENSP00000358742.3:n.546+294G>A
ENST00000369729.7:c.507+294G>A	ENSP00000358744.3:n.507+294G>A
NM_001002759.1:c.546+294G>A	NP_001002759.1:n.546+294G>A
NM_145247.4:c.507+294G>A	NP_660290.3:n.507+294G>A
XM_005269521.2:c.732+294G>A	XP_005269578.1:n.732+294G>A
XM_005269521.3:c.732+294G>A	XP_005269578.1:n.732+294G>A
XM_017015672.1:c.507+294G>A	XP_016871161.1:n.507+294G>A
NM_001002759.2:c.546+294G>A MANE Select	NP_001002759.1:n.546+294G>A
NM_001384829.1:c.507+294G>A	NP_001371758.1:n.507+294G>A
NM_001384830.1:c.507+294G>A	NP_001371759.1:n.507+294G>A
NM_145247.5:c.507+294G>A	NP_660290.3:n.507+294G>A