Canonical Allele Identifier: CA10635720

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 306209
• ClinVar RCV Id: RCV000259693 ; RCV000317300 ; RCV000370726 ; RCV001778900
• dbSNP Id: rs115238711
• gnomAD v2: 11-76926183-T-C
• gnomAD v3: 11-77215138-T-C
• gnomAD v4: 11-77215138-T-C
• MyVariant Identifiers: chr11:g.76926183T>C (hg19) ; chr11:g.77215138T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77215138T>C , CM000673.2:g.77215138T>C	GRCh38
NC_000011.9:g.76926183T>C , CM000673.1:g.76926183T>C	GRCh37
NC_000011.8:g.76603831T>C	NCBI36
NG_009086.1:g.91874T>C
NG_009086.2:g.91893T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.*442T>C MANE Select	ENSP00000386331.3:n.*442T>C
ENST00000670577.1:c.4891T>C
ENST00000409709.7:c.*442T>C	ENSP00000386331.3:n.*442T>C
ENST00000458169.2:c.4516T>C	ENSP00000417017.2:n.4516T>C
ENST00000458637.6:c.*442T>C	ENSP00000392185.2:n.*442T>C
ENST00000481328.7:n.5640T>C
ENST00000605744.1:n.2604T>C
NM_000260.3:c.*442T>C	NP_000251.3:n.*442T>C
NM_001127180.1:c.*442T>C	NP_001120652.1:n.*442T>C
XM_005274012.2:c.*442T>C	XP_005274069.1:n.*442T>C
XM_006718561.2:c.*442T>C	XP_006718624.1:n.*442T>C
XR_949941.1:n.7384T>C
XM_017017780.1:c.*442T>C	XP_016873269.1:n.*442T>C
XM_017017784.1:c.*442T>C	XP_016873273.1:n.*442T>C
XM_017017788.1:c.*442T>C	XP_016873277.1:n.*442T>C
XR_001747885.1:n.7169T>C
XR_001747887.1:n.7155T>C
NM_000260.4:c.*442T>C MANE Select	NP_000251.3:n.*442T>C
NM_001127180.2:c.*442T>C	NP_001120652.1:n.*442T>C
NM_001369365.1:c.*442T>C	NP_001356294.1:n.*442T>C