Canonical Allele Identifier: CA4179731

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257885
• ClinVar RCV Id: RCV000247553 ; RCV000629544 ; RCV001764232
• dbSNP Id: rs190062687
• ExAC: 7:21646160 C / T
• gnomAD v2: 7-21646160-C-T
• gnomAD v3: 7-21606542-C-T
• gnomAD v4: 7-21606542-C-T
• COSMIC: COSM289677
• MyVariant Identifiers: chr7:g.21646160C>T (hg19) ; chr7:g.21606542C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21606542C>T , CM000669.2:g.21606542C>T	GRCh38
NC_000007.13:g.21646160C>T , CM000669.1:g.21646160C>T	GRCh37
NC_000007.12:g.21612685C>T	NCBI36
NG_012886.2:g.68328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.3765C>T MANE Select	ENSP00000475939.1:p.Asp1255=
ENST00000328843.10:c.3765C>T	ENSP00000330671.7:p.Asp1255=
ENST00000409508.7:c.3765C>T	ENSP00000475939.1:p.Asp1255=
ENST00000620169.4:c.3765C>T	ENSP00000481693.1:p.Asp1255=
NM_001277115.1:c.3765C>T	NP_001264044.1:p.Asp1255=
NM_001277115.2:c.3765C>T MANE Select	NP_001264044.1:p.Asp1255=