Canonical Allele Identifier: CA4179443

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 2727221
• ClinVar RCV Id: RCV003539032
• dbSNP Id: rs772478778
• ExAC: 7:21639556 C / T
• gnomAD v2: 7-21639556-C-T
• gnomAD v3: 7-21599938-C-T
• gnomAD v4: 7-21599938-C-T
• MyVariant Identifiers: chr7:g.21639556C>T (hg19) ; chr7:g.21599938C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21599938C>T , CM000669.2:g.21599938C>T	GRCh38
NC_000007.13:g.21639556C>T , CM000669.1:g.21639556C>T	GRCh37
NC_000007.12:g.21606081C>T	NCBI36
NG_012886.2:g.61724C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.2819C>T MANE Select	ENSP00000475939.1:p.Pro940Leu
ENST00000328843.10:c.2819C>T	ENSP00000330671.7:p.Pro940Leu
ENST00000409508.7:c.2819C>T	ENSP00000475939.1:p.Pro940Leu
ENST00000620169.4:c.2819C>T	ENSP00000481693.1:p.Pro940Leu
NM_001277115.1:c.2819C>T	NP_001264044.1:p.Pro940Leu
NM_001277115.2:c.2819C>T MANE Select	NP_001264044.1:p.Pro940Leu