Canonical Allele Identifier: CA394884106

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2126656
• ClinVar RCV Id: RCV003051770
• MyVariant Identifiers: chr16:g.16244629G>C (hg19) ; chr16:g.16150772G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150772G>C , CM000678.2:g.16150772G>C	GRCh38
NC_000016.9:g.16244629G>C , CM000678.1:g.16244629G>C	GRCh37
NC_000016.8:g.16152130G>C	NCBI36
NG_007558.2:g.77700C>G
NG_007558.3:g.77846C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*381C>G	ENSP00000483331.2:n.*381C>G
ENST00000205557.12:c.4209C>G MANE Select	ENSP00000205557.7:p.Ser1403Arg
ENST00000640696.1:c.1023C>G	ENSP00000492197.1:p.Ser341Arg
ENST00000205557.11:c.4209C>G	ENSP00000205557.7:p.Ser1403Arg
ENST00000456970.6:c.3834C>G	ENSP00000405002.2:n.3834C>G
ENST00000576204.5:n.1072C>G
ENST00000622290.4:c.*1418C>G	ENSP00000483331.1:n.*1418C>G
NM_001171.5:c.4209C>G	NP_001162.4:p.Ser1403Arg
XM_011522479.1:c.4176C>G	XP_011520781.1:p.Ser1392Arg
XM_011522480.1:c.3867C>G	XP_011520782.1:p.Ser1289Arg
XM_011522481.1:c.3867C>G	XP_011520783.1:p.Ser1289Arg
XR_933134.1:n.538+6482G>C
NM_001351800.1:c.3867C>G	NP_001338729.1:p.Ser1289Arg
NR_147784.1:n.3871C>G
XM_011522479.2:c.4176C>G	XP_011520781.1:p.Ser1392Arg
XM_011522481.3:c.3867C>G	XP_011520783.1:p.Ser1289Arg
XM_017023212.1:c.4041C>G	XP_016878701.1:p.Ser1347Arg
XM_024450261.1:c.4245C>G	XP_024306029.1:p.Ser1415Arg
NM_001171.6:c.4209C>G MANE Select	NP_001162.5:p.Ser1403Arg