Canonical Allele Identifier: CA4183095

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257861
• ClinVar RCV Id: RCV000249701 ; RCV001159688 ; RCV002518608
• dbSNP Id: rs764262245
• ExAC: 7:21924026 C / T
• gnomAD v2: 7-21924026-C-T
• gnomAD v4: 7-21884408-C-T
• COSMIC: COSM5976326 ; COSM5976327
• MyVariant Identifiers: chr7:g.21924026C>T (hg19) ; chr7:g.21884408C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21884408C>T , CM000669.2:g.21884408C>T	GRCh38
NC_000007.13:g.21924026C>T , CM000669.1:g.21924026C>T	GRCh37
NC_000007.12:g.21890551C>T	NCBI36
NG_012886.2:g.346194C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.12505C>T MANE Select	ENSP00000475939.1:p.Leu4169=
ENST00000328843.10:c.12526C>T	ENSP00000330671.7:p.Leu4176=
ENST00000409508.7:c.12505C>T	ENSP00000475939.1:p.Leu4169=
ENST00000620169.4:c.12526C>T	ENSP00000481693.1:p.Leu4176=
NM_001277115.1:c.12505C>T	NP_001264044.1:p.Leu4169=
NM_001277115.2:c.12505C>T MANE Select	NP_001264044.1:p.Leu4169=