Canonical Allele Identifier: CA2539280
Gene: BTLA HGNC NCBI
COSMIC:
COSM6263233 (not active)
MyVariant.info:
GRCh38 chr3:g.112466178G>A
GRCh37 chr3:g.112185025G>A
Revel Score:
ENST00000334529 (MANE Select) 0.009
ENST00000383680 0.009
gnomAD v2:
3:112185025 G / A
gnomAD v3:
3:112466178 G / A
gnomAD v4:
chr3-112466178-G-A
Joint Max Group AF 0.95897725 (NFE)
Genomes Max Group AF 0.95184709 (NFE)
Exomes Max Group AF 0.95908208 (NFE)
dbSNP:
9288952
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.112466178G>A , CM000665.2:g.112466178G>A GRCh38
NC_000003.11:g.112185025G>A , CM000665.1:g.112185025G>A GRCh37
NC_000003.10:g.113667715G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000334529.10:c.800C>T MANE Select ENSP00000333919.5:p.Pro267Leu
ENST00000334529.9:c.800C>T ENSP00000333919.5:p.Pro267Leu
ENST00000383680.4:c.656C>T ENSP00000373178.4:p.Pro219Leu
ENST00000474965.1:n.304C>T
NM_001085357.1:c.656C>T NP_001078826.1:p.Pro219Leu
NM_181780.3:c.800C>T NP_861445.3:p.Pro267Leu
XM_011512446.1:c.818C>T XP_011510748.1:p.Pro273Leu
XM_011512447.1:c.818C>T XP_011510749.1:p.Pro273Leu
XM_011512447.3:c.818C>T XP_011510749.1:p.Pro273Leu
XM_017005748.2:c.800C>T XP_016861237.1:p.Pro267Leu
NM_181780.4:c.800C>T MANE Select NP_861445.4:p.Pro267Leu
NM_001085357.2:c.656C>T NP_001078826.1:p.Pro219Leu
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