Canonical Allele Identifier: CA366964060

Gene: DNAH11

Linked Data

• gnomAD v4: 7-21880801-C-T
• MyVariant Identifiers: chr7:g.21920419C>T (hg19) ; chr7:g.21880801C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21880801C>T , CM000669.2:g.21880801C>T	GRCh38
NC_000007.13:g.21920419C>T , CM000669.1:g.21920419C>T	GRCh37
NC_000007.12:g.21886944C>T	NCBI36
NG_012886.2:g.342587C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.12295C>T MANE Select	ENSP00000475939.1:p.Pro4099Ser
ENST00000328843.10:c.12316C>T	ENSP00000330671.7:p.Pro4106Ser
ENST00000409508.7:c.12295C>T	ENSP00000475939.1:p.Pro4099Ser
ENST00000620169.4:c.12316C>T	ENSP00000481693.1:p.Pro4106Ser
NM_001277115.1:c.12295C>T	NP_001264044.1:p.Pro4099Ser
NM_001277115.2:c.12295C>T MANE Select	NP_001264044.1:p.Pro4099Ser