Canonical Allele Identifier: CA375546380

Gene: CARD9

Linked Data

• gnomAD v4: 9-136371964-C-A
• MyVariant Identifiers: chr9:g.139266416C>A (hg19) ; chr9:g.136371964C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136371964C>A , CM000671.2:g.136371964C>A	GRCh38
NC_000009.11:g.139266416C>A , CM000671.1:g.139266416C>A	GRCh37
NC_000009.10:g.138386237C>A	NCBI36
NG_021197.1:g.6718G>T , LRG_178:g.6718G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000641290.2:n.120G>T
ENST00000695905.1:n.243G>T
ENST00000695906.1:n.243G>T
ENST00000695908.1:n.234G>T
ENST00000696169.1:c.115G>T	ENSP00000512460.1:p.Val39Phe
ENST00000371732.10:c.115G>T MANE Select	ENSP00000360797.5:p.Val39Phe
ENST00000641290.1:c.-198G>T	ENSP00000493113.1:n.-198G>T
ENST00000371732.9:c.115G>T	ENSP00000360797.5:p.Val39Phe
ENST00000371734.7:c.115G>T	ENSP00000360799.3:p.Val39Phe
ENST00000481053.5:n.244G>T
ENST00000489932.2:c.115G>T	ENSP00000451368.1:p.Val39Phe
ENST00000556340.1:n.246G>T
NM_052813.4:c.115G>T , LRG_178t1:c.115G>T	NP_434700.2:p.Val39Phe
NM_052814.3:c.115G>T	NP_434701.1:p.Val39Phe
NM_052813.5:c.115G>T MANE Select	NP_434700.2:p.Val39Phe
NM_052814.4:c.115G>T	NP_434701.1:p.Val39Phe