Canonical Allele Identifier: CA175718

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 163104
• ClinVar RCV Id: RCV000150435 ; RCV000556593 ; RCV001263479
• dbSNP Id: rs727502967
• gnomAD v2: 7-21678618-C-T
• gnomAD v3: 7-21639000-C-T
• gnomAD v4: 7-21639000-C-T
• COSMIC: COSM3765344 ; COSM3765345
• MyVariant Identifiers: chr7:g.21678618C>T (hg19) ; chr7:g.21639000C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21639000C>T , CM000669.2:g.21639000C>T	GRCh38
NC_000007.13:g.21678618C>T , CM000669.1:g.21678618C>T	GRCh37
NC_000007.12:g.21645143C>T	NCBI36
NG_012886.2:g.100786C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.4879C>T MANE Select	ENSP00000475939.1:p.Arg1627Cys
ENST00000328843.10:c.4894C>T	ENSP00000330671.7:p.Arg1632Cys
ENST00000409508.7:c.4879C>T	ENSP00000475939.1:p.Arg1627Cys
ENST00000620169.4:c.4894C>T	ENSP00000481693.1:p.Arg1632Cys
NM_001277115.1:c.4879C>T	NP_001264044.1:p.Arg1627Cys
NM_001277115.2:c.4879C>T MANE Select	NP_001264044.1:p.Arg1627Cys