Canonical Allele Identifier: CA4233996

Gene: BLVRA

Linked Data

• ClinVar Variation Id: 2055170
• ClinVar RCV Id: RCV002933195
• dbSNP Id: rs1802849
• ExAC: 7:43827595 G / A
• gnomAD v2: 7-43827595-G-A
• gnomAD v3: 7-43787996-G-A
• gnomAD v4: 7-43787996-G-A
• MyVariant Identifiers: chr7:g.43827595G>A (hg19) ; chr7:g.43787996G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.43787996G>A , CM000669.2:g.43787996G>A	GRCh38
NC_000007.13:g.43827595G>A , CM000669.1:g.43827595G>A	GRCh37
NC_000007.12:g.43794120G>A	NCBI36
NG_031876.1:g.34324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265523.9:c.105G>A MANE Select	ENSP00000265523.4:p.Ala35=
ENST00000265523.8:c.105G>A	ENSP00000265523.4:p.Ala35=
ENST00000402924.5:c.105G>A	ENSP00000385757.1:p.Ala35=
ENST00000424330.1:c.105G>A	ENSP00000412005.1:p.Ala35=
ENST00000453612.1:n.129G>A
NM_000712.3:c.105G>A	NP_000703.2:p.Ala35=
NM_001253823.1:c.105G>A	NP_001240752.1:p.Ala35=
XM_011515474.1:c.105G>A	XP_011513776.1:p.Ala35=
XR_428136.2:n.265-2238C>T
XR_927212.1:n.265-2238C>T
XR_927213.1:n.265-2238C>T
XM_011515474.3:c.105G>A	XP_011513776.1:p.Ala35=
XM_017012520.2:c.105G>A	XP_016868009.1:p.Ala35=
XM_024446867.1:c.105G>A	XP_024302635.1:p.Ala35=
XR_001745190.1:n.266-2238C>T
NM_000712.4:c.105G>A MANE Select	NP_000703.2:p.Ala35=
NM_001253823.2:c.105G>A	NP_001240752.1:p.Ala35=