Canonical Allele Identifier: CA145375

Gene: CARD9

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136371345G>A , CM000671.2:g.136371345G>A	GRCh38
NC_000009.11:g.139265797G>A , CM000671.1:g.139265797G>A	GRCh37
NC_000009.10:g.138385618G>A	NCBI36
NG_021197.1:g.7337C>T , LRG_178:g.7337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641290.2:n.306C>T
ENST00000695905.1:n.429C>T
ENST00000695906.1:n.429C>T
ENST00000695908.1:n.420C>T
ENST00000696169.1:c.301C>T	ENSP00000512460.1:p.Arg101Cys
ENST00000371732.10:c.301C>T MANE Select	ENSP00000360797.5:p.Arg101Cys
ENST00000641290.1:c.-12C>T	ENSP00000493113.1:n.-12C>T
ENST00000371732.9:c.301C>T	ENSP00000360797.5:p.Arg101Cys
ENST00000371734.7:c.301C>T	ENSP00000360799.3:p.Arg101Cys
ENST00000481053.5:n.430C>T
ENST00000489932.2:c.301C>T	ENSP00000451368.1:p.Arg101Cys
ENST00000556340.1:n.432C>T
NM_052813.4:c.301C>T , LRG_178t1:c.301C>T	NP_434700.2:p.Arg101Cys
NM_052814.3:c.301C>T	NP_434701.1:p.Arg101Cys
NM_052813.5:c.301C>T MANE Select	NP_434700.2:p.Arg101Cys
NM_052814.4:c.301C>T	NP_434701.1:p.Arg101Cys