Canonical Allele Identifier: CA12976265

Gene: CARD9

Linked Data

• dbSNP Id: rs10870077
• gnomAD v2: 9-139263891-C-G
• gnomAD v3: 9-136369439-C-G
• gnomAD v4: 9-136369439-C-G
• MyVariant Identifiers: chr9:g.139263891C>G (hg19) ; chr9:g.136369439C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136369439C>G , CM000671.2:g.136369439C>G	GRCh38
NC_000009.11:g.139263891C>G , CM000671.1:g.139263891C>G	GRCh37
NC_000009.10:g.138383712C>G	NCBI36
NG_021197.1:g.9243G>C , LRG_178:g.9243G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000641290.2:n.1082+311G>C
ENST00000695905.1:n.1205+311G>C
ENST00000695906.1:n.1205+311G>C
ENST00000696169.1:c.1077+311G>C	ENSP00000512460.1:n.1077+311G>C
ENST00000371732.10:c.1077+311G>C MANE Select	ENSP00000360797.5:n.1077+311G>C
ENST00000371732.9:c.1077+311G>C	ENSP00000360797.5:n.1077+311G>C
ENST00000371734.7:c.1077+311G>C	ENSP00000360799.3:n.1077+311G>C
ENST00000481053.5:n.1206+311G>C
ENST00000485975.1:n.1005+311G>C
ENST00000489932.2:c.1077+311G>C	ENSP00000451368.1:n.1077+311G>C
NM_052813.4:c.1077+311G>C , LRG_178t1:c.1077+311G>C	NP_434700.2:n.1077+311G>C
NM_052814.3:c.1077+311G>C	NP_434701.1:n.1077+311G>C
NM_052813.5:c.1077+311G>C MANE Select	NP_434700.2:n.1077+311G>C
NM_052814.4:c.1077+311G>C	NP_434701.1:n.1077+311G>C