Canonical Allele Identifier: CA3731125

Gene: C4A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31996846_31996847dup , CM000668.2:g.31996846_31996847dup	GRCh38
NC_000006.11:g.31964623_31964624dup , CM000668.1:g.31964623_31964624dup	GRCh37
NC_000006.10:g.32072601_32072602dup	NCBI36
NG_011638.1:g.19790_19791dup , LRG_137:g.19790_19791dup

Transcript Alleles

HGVS	Amino-acid Change
NM_007293.3:c.3694_3695dup MANE Select	NP_009224.2:p.Val1233GlnfsTer?
ENST00000428956.7:c.3694_3695dup MANE Select	ENSP00000396688.2:p.Val1233GlnfsTer?
NM_001252204.1:c.3694_3695dup	NP_001239133.1:p.Val1233GlnfsTer?
NM_001252204.2:c.3694_3695dup	NP_001239133.1:p.Val1233GlnfsTer?
NM_007293.2:c.3694_3695dup , LRG_137t1:c.3694_3695dup	NP_009224.2:p.Val1233GlnfsTer?
ENST00000428956.6:c.3694_3695dup	ENSP00000396688.2:p.Val1233GlnfsTer?
ENST00000480795.1:n.102_103dup
ENST00000498271.1:c.3694_3695dup	ENSP00000420212.1:p.Val1233GlnfsTer?
ENST00000698442.1:c.3694_3695dup	ENSP00000513724.1:p.Val1233GlnfsTer?