Canonical Allele Identifier: CA278667021

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433374
• ClinVar RCV Id: RCV000499187
• dbSNP Id: rs78678589
• MyVariant Identifiers: chr16:g.16297314G>C (hg19) ; chr16:g.16203457G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16203457G>C , CM000678.2:g.16203457G>C	GRCh38
NC_000016.9:g.16297314G>C , CM000678.1:g.16297314G>C	GRCh37
NC_000016.8:g.16204815G>C	NCBI36
NG_007558.2:g.25015C>G
NG_007558.3:g.25161C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.951C>G	ENSP00000507301.1:p.Ser317Arg
ENST00000622290.5:c.951C>G	ENSP00000483331.2:p.Ser317Arg
ENST00000205557.12:c.951C>G MANE Select	ENSP00000205557.7:p.Ser317Arg
ENST00000205557.11:c.951C>G	ENSP00000205557.7:p.Ser317Arg
ENST00000456970.6:c.951C>G	ENSP00000405002.2:p.Ser317Arg
ENST00000574094.5:n.1047C>G
ENST00000577103.1:c.*818C>G	ENSP00000459243.1:n.*818C>G
ENST00000622290.4:c.951C>G	ENSP00000483331.1:p.Ser317Arg
NM_001171.5:c.951C>G	NP_001162.4:p.Ser317Arg
XM_011522479.1:c.951C>G	XP_011520781.1:p.Ser317Arg
XM_011522480.1:c.609C>G	XP_011520782.1:p.Ser203Arg
XM_011522481.1:c.609C>G	XP_011520783.1:p.Ser203Arg
XM_011522482.1:c.951C>G	XP_011520784.1:p.Ser317Arg
XR_932836.1:n.1186C>G
XR_932837.1:n.1187C>G
XR_932838.1:n.1187C>G
NM_001351800.1:c.609C>G	NP_001338729.1:p.Ser203Arg
NR_147784.1:n.988C>G
XM_011522479.2:c.951C>G	XP_011520781.1:p.Ser317Arg
XM_011522481.3:c.609C>G	XP_011520783.1:p.Ser203Arg
XM_011522482.3:c.951C>G	XP_011520784.1:p.Ser317Arg
XM_017023212.1:c.951C>G	XP_016878701.1:p.Ser317Arg
XM_017023214.1:c.951C>G	XP_016878703.1:p.Ser317Arg
XM_024450261.1:c.987C>G	XP_024306029.1:p.Ser329Arg
XR_932836.2:n.1132C>G
XR_932837.3:n.1132C>G
XR_932838.3:n.1132C>G
NM_001171.6:c.951C>G MANE Select	NP_001162.5:p.Ser317Arg