Canonical Allele Identifier: CA4179649

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359621
• ClinVar RCV Id: RCV000339106 ; RCV001257433 ; RCV002464189
• dbSNP Id: rs117830543
• ExAC: 7:21641058 T / G
• gnomAD v2: 7-21641058-T-G
• gnomAD v3: 7-21601440-T-G
• gnomAD v4: 7-21601440-T-G
• MyVariant Identifiers: chr7:g.21641058T>G (hg19) ; chr7:g.21601440T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21601440T>G , CM000669.2:g.21601440T>G	GRCh38
NC_000007.13:g.21641058T>G , CM000669.1:g.21641058T>G	GRCh37
NC_000007.12:g.21607583T>G	NCBI36
NG_012886.2:g.63226T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.3470T>G MANE Select	ENSP00000475939.1:p.Leu1157Arg
ENST00000328843.10:c.3470T>G	ENSP00000330671.7:p.Leu1157Arg
ENST00000409508.7:c.3470T>G	ENSP00000475939.1:p.Leu1157Arg
ENST00000620169.4:c.3470T>G	ENSP00000481693.1:p.Leu1157Arg
NM_001277115.1:c.3470T>G	NP_001264044.1:p.Leu1157Arg
NM_001277115.2:c.3470T>G MANE Select	NP_001264044.1:p.Leu1157Arg