Canonical Allele Identifier: CA394883793

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433452
• ClinVar RCV Id: RCV000499263
• dbSNP Id: rs1333662666
• MyVariant Identifiers: chr16:g.16244497C>T (hg19) ; chr16:g.16150640C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150640C>T , CM000678.2:g.16150640C>T	GRCh38
NC_000016.9:g.16244497C>T , CM000678.1:g.16244497C>T	GRCh37
NC_000016.8:g.16151998C>T	NCBI36
NG_007558.2:g.77832G>A
NG_007558.3:g.77978G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*513G>A	ENSP00000483331.2:n.*513G>A
ENST00000205557.12:c.4341G>A MANE Select	ENSP00000205557.7:p.Trp1447Ter
ENST00000640696.1:c.1155G>A	ENSP00000492197.1:p.Trp385Ter
ENST00000205557.11:c.4341G>A	ENSP00000205557.7:p.Trp1447Ter
ENST00000456970.6:c.3966G>A	ENSP00000405002.2:n.3966G>A
ENST00000576204.5:n.1204G>A
ENST00000622290.4:c.*1550G>A	ENSP00000483331.1:n.*1550G>A
NM_001171.5:c.4341G>A	NP_001162.4:p.Trp1447Ter
XM_011522479.1:c.4308G>A	XP_011520781.1:p.Trp1436Ter
XM_011522480.1:c.3999G>A	XP_011520782.1:p.Trp1333Ter
XM_011522481.1:c.3999G>A	XP_011520783.1:p.Trp1333Ter
XR_933134.1:n.538+6350C>T
NM_001351800.1:c.3999G>A	NP_001338729.1:p.Trp1333Ter
NR_147784.1:n.4003G>A
XM_011522479.2:c.4308G>A	XP_011520781.1:p.Trp1436Ter
XM_011522481.3:c.3999G>A	XP_011520783.1:p.Trp1333Ter
XM_017023212.1:c.4173G>A	XP_016878701.1:p.Trp1391Ter
XM_024450261.1:c.4377G>A	XP_024306029.1:p.Trp1459Ter
NM_001171.6:c.4341G>A MANE Select	NP_001162.5:p.Trp1447Ter