Canonical Allele Identifier: CA348241

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 219979
• ClinVar RCV Id: RCV000203962
• dbSNP Id: rs367916239
• ExAC: 7:21657371 G / T
• gnomAD v2: 7-21657371-G-T
• gnomAD v3: 7-21617753-G-T
• gnomAD v4: 7-21617753-G-T
• MyVariant Identifiers: chr7:g.21657371G>T (hg19) ; chr7:g.21617753G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21617753G>T , CM000669.2:g.21617753G>T	GRCh38
NC_000007.13:g.21657371G>T , CM000669.1:g.21657371G>T	GRCh37
NC_000007.12:g.21623896G>T	NCBI36
NG_012886.2:g.79539G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.4230G>T MANE Select	ENSP00000475939.1:p.Trp1410Cys
ENST00000328843.10:c.4245G>T	ENSP00000330671.7:p.Trp1415Cys
ENST00000409508.7:c.4230G>T	ENSP00000475939.1:p.Trp1410Cys
ENST00000620169.4:c.4245G>T	ENSP00000481693.1:p.Trp1415Cys
NM_001277115.1:c.4230G>T	NP_001264044.1:p.Trp1410Cys
NM_001277115.2:c.4230G>T MANE Select	NP_001264044.1:p.Trp1410Cys