Canonical Allele Identifier: CA280264453

Gene: ABCC11

Linked Data

• dbSNP Id: rs143669053
• gnomAD v2: 16-48258219-A-C
• gnomAD v4: 16-48224308-A-C
• MyVariant Identifiers: chr16:g.48258219A>C (hg19) ; chr16:g.48224308A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.48224308A>C , CM000678.2:g.48224308A>C	GRCh38
NC_000016.9:g.48258219A>C , CM000678.1:g.48258219A>C	GRCh37
NC_000016.8:g.46815720A>C	NCBI36
NG_011522.1:g.15870T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356608.7:c.517T>G MANE Select	ENSP00000349017.2:p.Phe173Val
ENST00000353782.9:c.517T>G	ENSP00000311326.6:p.Phe173Val
ENST00000356608.6:c.517T>G	ENSP00000349017.2:p.Phe173Val
ENST00000394747.5:c.517T>G	ENSP00000378230.1:p.Phe173Val
ENST00000394748.5:c.517T>G	ENSP00000378231.1:p.Phe173Val
ENST00000567385.5:n.915T>G
NM_032583.3:c.517T>G	NP_115972.2:p.Phe173Val
NM_033151.3:c.517T>G	NP_149163.2:p.Phe173Val
NM_145186.2:c.517T>G	NP_660187.1:p.Phe173Val
XM_011523396.1:c.319T>G	XP_011521698.1:p.Phe107Val
XM_017023795.2:c.517T>G	XP_016879284.1:p.Phe173Val
XM_017023796.2:c.517T>G	XP_016879285.1:p.Phe173Val
XM_017023797.2:c.517T>G	XP_016879286.1:p.Phe173Val
XM_017023798.2:c.517T>G	XP_016879287.1:p.Phe173Val
XM_017023799.2:c.517T>G	XP_016879288.1:p.Phe173Val
XM_017023800.2:c.517T>G	XP_016879289.1:p.Phe173Val
XM_017023801.2:c.517T>G	XP_016879290.1:p.Phe173Val
XM_017023803.1:c.517T>G	XP_016879292.1:p.Phe173Val
XR_001752012.1:n.3195T>G
NM_001370496.1:c.517T>G	NP_001357425.1:p.Phe173Val
NM_001370497.1:c.517T>G MANE Select	NP_001357426.1:p.Phe173Val
NM_032583.4:c.517T>G	NP_115972.2:p.Phe173Val
NM_033151.4:c.517T>G	NP_149163.2:p.Phe173Val
NM_145186.3:c.517T>G	NP_660187.1:p.Phe173Val