Canonical Allele Identifier: CA4179939

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 454674
• ClinVar RCV Id: RCV000532813
• dbSNP Id: rs200216579
• ExAC: 7:21657365 G / T
• gnomAD v2: 7-21657365-G-T
• gnomAD v3: 7-21617747-G-T
• gnomAD v4: 7-21617747-G-T
• MyVariant Identifiers: chr7:g.21657365G>T (hg19) ; chr7:g.21617747G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21617747G>T , CM000669.2:g.21617747G>T	GRCh38
NC_000007.13:g.21657365G>T , CM000669.1:g.21657365G>T	GRCh37
NC_000007.12:g.21623890G>T	NCBI36
NG_012886.2:g.79533G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.4224G>T MANE Select	ENSP00000475939.1:p.Arg1408Ser
ENST00000328843.10:c.4239G>T	ENSP00000330671.7:p.Arg1413Ser
ENST00000409508.7:c.4224G>T	ENSP00000475939.1:p.Arg1408Ser
ENST00000620169.4:c.4239G>T	ENSP00000481693.1:p.Arg1413Ser
NM_001277115.1:c.4224G>T	NP_001264044.1:p.Arg1408Ser
NM_001277115.2:c.4224G>T MANE Select	NP_001264044.1:p.Arg1408Ser