Canonical Allele Identifier: CA366955073
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21748600-T-C
MyVariant Identifiers: chr7:g.21788218T>C (hg19) chr7:g.21748600T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748600T>C , CM000669.2:g.21748600T>C GRCh38
NC_000007.13:g.21788218T>C , CM000669.1:g.21788218T>C GRCh37
NC_000007.12:g.21754743T>C NCBI36
NG_012886.2:g.210386T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8531T>C MANE Select ENSP00000475939.1:p.Leu2844Ser
ENST00000328843.10:c.8552T>C ENSP00000330671.7:p.Leu2851Ser
ENST00000409508.7:c.8531T>C ENSP00000475939.1:p.Leu2844Ser
ENST00000620169.4:c.8552T>C ENSP00000481693.1:p.Leu2851Ser
NM_001277115.1:c.8531T>C NP_001264044.1:p.Leu2844Ser
NM_001277115.2:c.8531T>C MANE Select NP_001264044.1:p.Leu2844Ser
Search 100 bp 5'
Search 100 bp 3'