Canonical Allele Identifier: CA4180251

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257901
• ClinVar RCV Id: RCV000244624 ; RCV000295728
• dbSNP Id: rs141572016
• ExAC: 7:21695438 T / C
• gnomAD v2: 7-21695438-T-C
• gnomAD v3: 7-21655820-T-C
• gnomAD v4: 7-21655820-T-C
• MyVariant Identifiers: chr7:g.21695438T>C (hg19) ; chr7:g.21655820T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21655820T>C , CM000669.2:g.21655820T>C	GRCh38
NC_000007.13:g.21695438T>C , CM000669.1:g.21695438T>C	GRCh37
NC_000007.12:g.21661963T>C	NCBI36
NG_012886.2:g.117606T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.4945-12T>C MANE Select	ENSP00000475939.1:n.4945-12T>C
ENST00000328843.10:c.4960-12T>C	ENSP00000330671.7:n.4960-12T>C
ENST00000409508.7:c.4945-12T>C	ENSP00000475939.1:n.4945-12T>C
ENST00000620169.4:c.4960-12T>C	ENSP00000481693.1:n.4960-12T>C
NM_001277115.1:c.4945-12T>C	NP_001264044.1:n.4945-12T>C
NM_001277115.2:c.4945-12T>C MANE Select	NP_001264044.1:n.4945-12T>C