Canonical Allele Identifier: CA4178761

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359598
• ClinVar RCV Id: RCV000320459 ; RCV001573593
• dbSNP Id: rs200454446
• ExAC: 7:21599223 C / T
• gnomAD v2: 7-21599223-C-T
• gnomAD v3: 7-21559605-C-T
• gnomAD v4: 7-21559605-C-T
• MyVariant Identifiers: chr7:g.21599223C>T (hg19) ; chr7:g.21559605C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21559605C>T , CM000669.2:g.21559605C>T	GRCh38
NC_000007.13:g.21599223C>T , CM000669.1:g.21599223C>T	GRCh37
NC_000007.12:g.21565748C>T	NCBI36
NG_012886.2:g.21391C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.695C>T MANE Select	ENSP00000475939.1:p.Pro232Leu
ENST00000328843.10:c.695C>T	ENSP00000330671.7:p.Pro232Leu
ENST00000409508.7:c.695C>T	ENSP00000475939.1:p.Pro232Leu
ENST00000620169.4:c.695C>T	ENSP00000481693.1:p.Pro232Leu
NM_001277115.1:c.695C>T	NP_001264044.1:p.Pro232Leu
NM_001277115.2:c.695C>T MANE Select	NP_001264044.1:p.Pro232Leu