Canonical Allele Identifier: CA4180152

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 410828
• ClinVar RCV Id: RCV000468667 ; RCV002293442 ; RCV003144272
• dbSNP Id: rs202009583
• ExAC: 7:21677237 G / C
• gnomAD v2: 7-21677237-G-C
• gnomAD v3: 7-21637619-G-C
• gnomAD v4: 7-21637619-G-C
• MyVariant Identifiers: chr7:g.21677237G>C (hg19) ; chr7:g.21637619G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21637619G>C , CM000669.2:g.21637619G>C	GRCh38
NC_000007.13:g.21677237G>C , CM000669.1:g.21677237G>C	GRCh37
NC_000007.12:g.21643762G>C	NCBI36
NG_012886.2:g.99405G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.4734G>C MANE Select	ENSP00000475939.1:p.Met1578Ile
ENST00000328843.10:c.4749G>C	ENSP00000330671.7:p.Met1583Ile
ENST00000409508.7:c.4734G>C	ENSP00000475939.1:p.Met1578Ile
ENST00000620169.4:c.4749G>C	ENSP00000481693.1:p.Met1583Ile
NM_001277115.1:c.4734G>C	NP_001264044.1:p.Met1578Ile
NM_001277115.2:c.4734G>C MANE Select	NP_001264044.1:p.Met1578Ile