Canonical Allele Identifier: CA9772201

Gene: BFSP1

Linked Data

• ClinVar Variation Id: 257617
• ClinVar RCV Id: RCV000251243 ; RCV000842028 ; RCV001517450
• dbSNP Id: rs11537702
• ExAC: 20:17479617 G / A
• gnomAD v2: 20-17479617-G-A
• gnomAD v3: 20-17498972-G-A
• gnomAD v4: 20-17498972-G-A
• MyVariant Identifiers: chr20:g.17479617G>A (hg19) ; chr20:g.17498972G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17498972G>A , CM000682.2:g.17498972G>A	GRCh38
NC_000020.10:g.17479617G>A , CM000682.1:g.17479617G>A	GRCh37
NC_000020.9:g.17427617G>A	NCBI36
NG_012423.2:g.75249C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000377873.8:c.804C>T MANE Select	ENSP00000367104.3:p.Asn268=
ENST00000536626.7:c.387C>T	ENSP00000442522.1:p.Asn129=
ENST00000377868.6:c.429C>T	ENSP00000367099.2:p.Asn143=
ENST00000377873.7:c.804C>T	ENSP00000367104.3:p.Asn268=
ENST00000536626.5:c.387C>T	ENSP00000442522.1:p.Asn129=
NM_001161705.1:c.429C>T	NP_001155177.1:p.Asn143=
NM_001195.4:c.804C>T	NP_001186.1:p.Asn268=
NM_001278606.1:c.387C>T	NP_001265535.1:p.Asn129=
NM_001278607.1:c.471C>T	NP_001265536.1:p.Asn157=
NM_001278608.1:c.387C>T	NP_001265537.1:p.Asn129=
XM_011529312.1:c.387C>T	XP_011527614.1:p.Asn129=
XM_017028005.2:c.696C>T	XP_016883494.1:p.Asn232=
NM_001195.5:c.804C>T MANE Select	NP_001186.1:p.Asn268=
NM_001161705.2:c.429C>T	NP_001155177.1:p.Asn143=
NM_001278606.2:c.387C>T	NP_001265535.1:p.Asn129=
NM_001278607.2:c.471C>T	NP_001265536.1:p.Asn157=
NM_001278608.2:c.387C>T	NP_001265537.1:p.Asn129=