Canonical Allele Identifier: CA4180908

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257921
• ClinVar RCV Id: RCV000247810 ; RCV000403052
• dbSNP Id: rs202012891
• ExAC: 7:21747377 T / C
• gnomAD v2: 7-21747377-T-C
• gnomAD v3: 7-21707759-T-C
• gnomAD v4: 7-21707759-T-C
• MyVariant Identifiers: chr7:g.21747377T>C (hg19) ; chr7:g.21707759T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21707759T>C , CM000669.2:g.21707759T>C	GRCh38
NC_000007.13:g.21747377T>C , CM000669.1:g.21747377T>C	GRCh37
NC_000007.12:g.21713902T>C	NCBI36
NG_012886.2:g.169545T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.6607T>C MANE Select	ENSP00000475939.1:p.Leu2203=
ENST00000328843.10:c.6628T>C	ENSP00000330671.7:p.Leu2210=
ENST00000409508.7:c.6607T>C	ENSP00000475939.1:p.Leu2203=
ENST00000620169.4:c.6628T>C	ENSP00000481693.1:p.Leu2210=
NM_001277115.1:c.6607T>C	NP_001264044.1:p.Leu2203=
NM_001277115.2:c.6607T>C MANE Select	NP_001264044.1:p.Leu2203=