Canonical Allele Identifier: CA4233997

Gene: BLVRA

Linked Data

• ClinVar Variation Id: 2705820
• ClinVar RCV Id: RCV003575627
• dbSNP Id: rs17245918
• ExAC: 7:43827599 C / G
• gnomAD v2: 7-43827599-C-G
• gnomAD v3: 7-43788000-C-G
• gnomAD v4: 7-43788000-C-G
• MyVariant Identifiers: chr7:g.43827599C>G (hg19) ; chr7:g.43788000C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.43788000C>G , CM000669.2:g.43788000C>G	GRCh38
NC_000007.13:g.43827599C>G , CM000669.1:g.43827599C>G	GRCh37
NC_000007.12:g.43794124C>G	NCBI36
NG_031876.1:g.34328C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265523.9:c.109C>G MANE Select	ENSP00000265523.4:p.Leu37Val
ENST00000265523.8:c.109C>G	ENSP00000265523.4:p.Leu37Val
ENST00000402924.5:c.109C>G	ENSP00000385757.1:p.Leu37Val
ENST00000424330.1:c.109C>G	ENSP00000412005.1:p.Leu37Val
ENST00000453612.1:n.133C>G
NM_000712.3:c.109C>G	NP_000703.2:p.Leu37Val
NM_001253823.1:c.109C>G	NP_001240752.1:p.Leu37Val
XM_011515474.1:c.109C>G	XP_011513776.1:p.Leu37Val
XR_428136.2:n.265-2242G>C
XR_927212.1:n.265-2242G>C
XR_927213.1:n.265-2242G>C
XM_011515474.3:c.109C>G	XP_011513776.1:p.Leu37Val
XM_017012520.2:c.109C>G	XP_016868009.1:p.Leu37Val
XM_024446867.1:c.109C>G	XP_024302635.1:p.Leu37Val
XR_001745190.1:n.266-2242G>C
NM_000712.4:c.109C>G MANE Select	NP_000703.2:p.Leu37Val
NM_001253823.2:c.109C>G	NP_001240752.1:p.Leu37Val