Canonical Allele Identifier: CA129122

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 30338
• ClinVar RCV Id: RCV000023278 ; RCV000023277
• dbSNP Id: rs387906859
• MyVariant Identifiers: chr16:g.16244622G>T (hg19) ; chr16:g.16150765G>T (hg38)
• PubMed: PMID:20034067 ; PMID:25264593

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150765G>T , CM000678.2:g.16150765G>T	GRCh38
NC_000016.9:g.16244622G>T , CM000678.1:g.16244622G>T	GRCh37
NC_000016.8:g.16152123G>T	NCBI36
NG_007558.2:g.77707C>A
NG_007558.3:g.77853C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*388C>A	ENSP00000483331.2:n.*388C>A
ENST00000205557.12:c.4216C>A MANE Select	ENSP00000205557.7:p.Gln1406Lys
ENST00000640696.1:c.1030C>A	ENSP00000492197.1:p.Gln344Lys
ENST00000205557.11:c.4216C>A	ENSP00000205557.7:p.Gln1406Lys
ENST00000456970.6:c.3841C>A	ENSP00000405002.2:n.3841C>A
ENST00000576204.5:n.1079C>A
ENST00000622290.4:c.*1425C>A	ENSP00000483331.1:n.*1425C>A
NM_001171.5:c.4216C>A	NP_001162.4:p.Gln1406Lys
XM_011522479.1:c.4183C>A	XP_011520781.1:p.Gln1395Lys
XM_011522480.1:c.3874C>A	XP_011520782.1:p.Gln1292Lys
XM_011522481.1:c.3874C>A	XP_011520783.1:p.Gln1292Lys
XR_933134.1:n.538+6475G>T
NM_001351800.1:c.3874C>A	NP_001338729.1:p.Gln1292Lys
NR_147784.1:n.3878C>A
XM_011522479.2:c.4183C>A	XP_011520781.1:p.Gln1395Lys
XM_011522481.3:c.3874C>A	XP_011520783.1:p.Gln1292Lys
XM_017023212.1:c.4048C>A	XP_016878701.1:p.Gln1350Lys
XM_024450261.1:c.4252C>A	XP_024306029.1:p.Gln1418Lys
NM_001171.6:c.4216C>A MANE Select	NP_001162.5:p.Gln1406Lys