Canonical Allele Identifier: CA10586976

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257912
• ClinVar RCV Id: RCV000247872 ; RCV003650557
• dbSNP Id: rs886038470
• gnomAD v2: 7-21726829-A-G
• gnomAD v3: 7-21687211-A-G
• gnomAD v4: 7-21687211-A-G
• MyVariant Identifiers: chr7:g.21726829A>G (hg19) ; chr7:g.21687211A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21687211A>G , CM000669.2:g.21687211A>G	GRCh38
NC_000007.13:g.21726829A>G , CM000669.1:g.21726829A>G	GRCh37
NC_000007.12:g.21693354A>G	NCBI36
NG_012886.2:g.148997A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.5734A>G MANE Select	ENSP00000475939.1:p.Met1912Val
ENST00000328843.10:c.5755A>G	ENSP00000330671.7:p.Met1919Val
ENST00000409508.7:c.5734A>G	ENSP00000475939.1:p.Met1912Val
ENST00000620169.4:c.5755A>G	ENSP00000481693.1:p.Met1919Val
NM_001277115.1:c.5734A>G	NP_001264044.1:p.Met1912Val
NM_001277115.2:c.5734A>G MANE Select	NP_001264044.1:p.Met1912Val