Canonical Allele Identifier: CA278647976

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433258
• ClinVar RCV Id: RCV000499189
• dbSNP Id: rs72653783
• MyVariant Identifiers: chr16:g.16276423T>G (hg19) ; chr16:g.16182566T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16182566T>G , CM000678.2:g.16182566T>G	GRCh38
NC_000016.9:g.16276423T>G , CM000678.1:g.16276423T>G	GRCh37
NC_000016.8:g.16183924T>G	NCBI36
NG_007558.2:g.45906A>C
NG_007558.3:g.46052A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2093A>C	ENSP00000483331.2:p.Gln698Pro
ENST00000205557.12:c.2093A>C MANE Select	ENSP00000205557.7:p.Gln698Pro
ENST00000205557.11:c.2093A>C	ENSP00000205557.7:p.Gln698Pro
ENST00000456970.6:c.2093A>C	ENSP00000405002.2:p.Gln698Pro
ENST00000574094.5:n.2040-641A>C
ENST00000622290.4:c.2093A>C	ENSP00000483331.1:p.Gln698Pro
NM_001171.5:c.2093A>C	NP_001162.4:p.Gln698Pro
XM_011522479.1:c.2093A>C	XP_011520781.1:p.Gln698Pro
XM_011522480.1:c.1751A>C	XP_011520782.1:p.Gln584Pro
XM_011522481.1:c.1751A>C	XP_011520783.1:p.Gln584Pro
XM_011522482.1:c.2093A>C	XP_011520784.1:p.Gln698Pro
XR_932836.1:n.2328A>C
XR_932837.1:n.2329A>C
XR_932838.1:n.2329A>C
NM_001351800.1:c.1751A>C	NP_001338729.1:p.Gln584Pro
NR_147784.1:n.2130A>C
XM_011522479.2:c.2093A>C	XP_011520781.1:p.Gln698Pro
XM_011522481.3:c.1751A>C	XP_011520783.1:p.Gln584Pro
XM_011522482.3:c.2093A>C	XP_011520784.1:p.Gln698Pro
XM_017023212.1:c.2093A>C	XP_016878701.1:p.Gln698Pro
XM_017023214.1:c.2093A>C	XP_016878703.1:p.Gln698Pro
XM_024450261.1:c.2129A>C	XP_024306029.1:p.Gln710Pro
XR_932836.2:n.2274A>C
XR_932837.3:n.2274A>C
XR_932838.3:n.2274A>C
NM_001171.6:c.2093A>C MANE Select	NP_001162.5:p.Gln698Pro