Canonical Allele Identifier: CA348046

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 221194
• ClinVar RCV Id: RCV000203756 ; RCV000214432 ; RCV000514577
• dbSNP Id: rs148429731
• ExAC: 7:21932096 T / G
• gnomAD v2: 7-21932096-T-G
• gnomAD v3: 7-21892478-T-G
• gnomAD v4: 7-21892478-T-G
• MyVariant Identifiers: chr7:g.21932096T>G (hg19) ; chr7:g.21892478T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21892478T>G , CM000669.2:g.21892478T>G	GRCh38
NC_000007.13:g.21932096T>G , CM000669.1:g.21932096T>G	GRCh37
NC_000007.12:g.21898621T>G	NCBI36
NG_012886.2:g.354264T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.12561T>G MANE Select	ENSP00000475939.1:p.Asp4187Glu
ENST00000328843.10:c.12582T>G	ENSP00000330671.7:p.Asp4194Glu
ENST00000409508.7:c.12561T>G	ENSP00000475939.1:p.Asp4187Glu
ENST00000620169.4:c.12582T>G	ENSP00000481693.1:p.Asp4194Glu
NM_001277115.1:c.12561T>G	NP_001264044.1:p.Asp4187Glu
NM_001277115.2:c.12561T>G MANE Select	NP_001264044.1:p.Asp4187Glu