Canonical Allele Identifier: CA10635715

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 306199
• ClinVar RCV Id: RCV000281613 ; RCV000341172 ; RCV000406806 ; RCV001850625
• dbSNP Id: rs767931313
• gnomAD v3: 11-77207397-G-C
• gnomAD v4: 11-77207397-G-C
• MyVariant Identifiers: chr11:g.76918442G>C (hg19) ; chr11:g.77207397G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77207397G>C , CM000673.2:g.77207397G>C	GRCh38
NC_000011.9:g.76918442G>C , CM000673.1:g.76918442G>C	GRCh37
NC_000011.8:g.76596090G>C	NCBI36
NG_009086.1:g.84133G>C
NG_009086.2:g.84152G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5851G>C MANE Select	ENSP00000386331.3:p.Asp1951His
ENST00000670577.1:c.3678G>C
ENST00000409619.6:c.5704G>C	ENSP00000386635.2:p.Asp1902His
ENST00000409709.7:c.5851G>C	ENSP00000386331.3:p.Asp1951His
ENST00000458169.2:c.3277G>C	ENSP00000417017.2:p.Asp1093His
ENST00000458637.6:c.5737G>C	ENSP00000392185.2:p.Asp1913His
ENST00000481328.7:n.3387G>C
ENST00000605744.1:n.765G>C
NM_000260.3:c.5851G>C	NP_000251.3:p.Asp1951His
NM_001127180.1:c.5737G>C	NP_001120652.1:p.Asp1913His
XM_005274012.2:c.5734G>C	XP_005274069.1:p.Asp1912His
XM_006718558.2:c.5842G>C	XP_006718621.1:p.Asp1948His
XM_006718559.2:c.5737G>C	XP_006718622.1:p.Asp1913His
XM_006718560.2:c.5734G>C	XP_006718623.1:p.Asp1912His
XM_006718561.2:c.5737G>C	XP_006718624.1:p.Asp1913His
XM_011545044.1:c.5851G>C	XP_011543346.1:p.Asp1951His
XM_011545045.1:c.5845G>C	XP_011543347.1:p.Asp1949His
XM_011545046.1:c.5818G>C	XP_011543348.1:p.Asp1940His
XM_011545047.1:c.5755G>C	XP_011543349.1:p.Asp1919His
XM_011545048.1:c.5626G>C	XP_011543350.1:p.Asp1876His
XM_011545049.1:c.5614G>C	XP_011543351.1:p.Asp1872His
XM_011545050.1:c.5587G>C	XP_011543352.1:p.Asp1863His
XM_011545051.1:c.5851G>C	XP_011543353.1:p.Asp1951His
XR_949938.1:n.6171G>C
XR_949941.1:n.6171G>C
XM_011545044.2:c.5851G>C	XP_011543346.1:p.Asp1951His
XM_011545046.2:c.5941G>C	XP_011543348.2:p.Asp1981His
XM_011545050.2:c.5587G>C	XP_011543352.1:p.Asp1863His
XM_017017778.1:c.5935G>C	XP_016873267.1:p.Asp1979His
XM_017017779.1:c.5932G>C	XP_016873268.1:p.Asp1978His
XM_017017780.1:c.5941G>C	XP_016873269.1:p.Asp1981His
XM_017017781.1:c.5845G>C	XP_016873270.1:p.Asp1949His
XM_017017782.1:c.5827G>C	XP_016873271.1:p.Asp1943His
XM_017017783.1:c.5824G>C	XP_016873272.1:p.Asp1942His
XM_017017784.1:c.5824G>C	XP_016873273.1:p.Asp1942His
XM_017017785.1:c.5704G>C	XP_016873274.1:p.Asp1902His
XM_017017786.1:c.5941G>C	XP_016873275.1:p.Asp1981His
XM_017017788.1:c.5827G>C	XP_016873277.1:p.Asp1943His
XR_001747885.1:n.5956G>C
XR_001747886.1:n.5871G>C
XR_001747887.1:n.5942G>C
NM_000260.4:c.5851G>C MANE Select	NP_000251.3:p.Asp1951His
NM_001127180.2:c.5737G>C	NP_001120652.1:p.Asp1913His
NM_001369365.1:c.5704G>C	NP_001356294.1:p.Asp1902His