Canonical Allele Identifier: CA1134632

Gene: FLAD1

Linked Data

• dbSNP Id: rs764650949
• ExAC: 1:154965234 G / T
• gnomAD v2: 1-154965234-G-T
• gnomAD v3: 1-154992758-G-T
• gnomAD v4: 1-154992758-G-T
• MyVariant Identifiers: chr1:g.154965234G>T (hg19) ; chr1:g.154992758G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154992758G>T , CM000663.2:g.154992758G>T	GRCh38
NC_000001.10:g.154965234G>T , CM000663.1:g.154965234G>T	GRCh37
NC_000001.9:g.153231858G>T	NCBI36
NG_042310.1:g.14465G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000292180.8:c.1600G>T MANE Select	ENSP00000292180.3:p.Val534Phe
ENST00000292180.7:c.1600G>T	ENSP00000292180.3:p.Val534Phe
ENST00000295530.6:c.*11+85G>T	ENSP00000295530.2:n.*11+85G>T
ENST00000315144.14:c.1309G>T	ENSP00000317296.10:p.Val437Phe
ENST00000368428.1:c.223G>T	ENSP00000357413.1:p.Val75Phe
ENST00000368432.5:c.1309G>T	ENSP00000357417.1:p.Val437Phe
ENST00000477609.5:n.344+85G>T
ENST00000481758.1:n.170G>T
ENST00000489992.5:n.410G>T
NM_001184891.1:c.1309G>T	NP_001171820.1:p.Val437Phe
NM_025207.4:c.1600G>T	NP_079483.3:p.Val534Phe
NM_201398.2:c.1309G>T	NP_958800.1:p.Val437Phe
XM_005245503.2:c.799G>T	XP_005245560.1:p.Val267Phe
XR_241098.3:n.1370G>T
NM_025207.5:c.1600G>T MANE Select	NP_079483.3:p.Val534Phe
NM_001184891.2:c.1309G>T	NP_001171820.1:p.Val437Phe
NM_201398.3:c.1309G>T	NP_958800.1:p.Val437Phe