Canonical Allele Identifier: CA4179191

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359606
• ClinVar RCV Id: RCV000333179
• dbSNP Id: rs771896570
• ExAC: 7:21628830 T / C
• gnomAD v2: 7-21628830-T-C
• gnomAD v3: 7-21589212-T-C
• gnomAD v4: 7-21589212-T-C
• MyVariant Identifiers: chr7:g.21628830T>C (hg19) ; chr7:g.21589212T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21589212T>C , CM000669.2:g.21589212T>C	GRCh38
NC_000007.13:g.21628830T>C , CM000669.1:g.21628830T>C	GRCh37
NC_000007.12:g.21595355T>C	NCBI36
NG_012886.2:g.50998T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.1978T>C MANE Select	ENSP00000475939.1:p.Leu660=
ENST00000328843.10:c.1978T>C	ENSP00000330671.7:p.Leu660=
ENST00000409508.7:c.1978T>C	ENSP00000475939.1:p.Leu660=
ENST00000620169.4:c.1978T>C	ENSP00000481693.1:p.Leu660=
NM_001277115.1:c.1978T>C	NP_001264044.1:p.Leu660=
NM_001277115.2:c.1978T>C MANE Select	NP_001264044.1:p.Leu660=