Canonical Allele Identifier: CA4179616

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257881
• ClinVar RCV Id: RCV000249727 ; RCV000284098
• dbSNP Id: rs776140118
• ExAC: 7:21640802 C / G
• gnomAD v2: 7-21640802-C-G
• gnomAD v3: 7-21601184-C-G
• gnomAD v4: 7-21601184-C-G
• MyVariant Identifiers: chr7:g.21640802C>G (hg19) ; chr7:g.21601184C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21601184C>G , CM000669.2:g.21601184C>G	GRCh38
NC_000007.13:g.21640802C>G , CM000669.1:g.21640802C>G	GRCh37
NC_000007.12:g.21607327C>G	NCBI36
NG_012886.2:g.62970C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409508.8:c.3425+5C>G MANE Select	ENSP00000475939.1:n.3425+5C>G
ENST00000328843.10:c.3425+5C>G	ENSP00000330671.7:n.3425+5C>G
ENST00000409508.7:c.3425+5C>G	ENSP00000475939.1:n.3425+5C>G
ENST00000620169.4:c.3425+5C>G	ENSP00000481693.1:n.3425+5C>G
NM_001277115.1:c.3425+5C>G	NP_001264044.1:n.3425+5C>G
NM_001277115.2:c.3425+5C>G MANE Select	NP_001264044.1:n.3425+5C>G