Canonical Allele Identifier: CA394884251

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2103570
• ClinVar RCV Id: RCV003022217
• MyVariant Identifiers: chr16:g.16263511C>G (hg19) ; chr16:g.16169654C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169654C>G , CM000678.2:g.16169654C>G	GRCh38
NC_000016.9:g.16263511C>G , CM000678.1:g.16263511C>G	GRCh37
NC_000016.8:g.16171012C>G	NCBI36
NG_007558.2:g.58818G>C
NG_007558.3:g.58964G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2987G>C	ENSP00000483331.2:p.Cys996Ser
ENST00000205557.12:c.2987G>C MANE Select	ENSP00000205557.7:p.Cys996Ser
ENST00000205557.11:c.2987G>C	ENSP00000205557.7:p.Cys996Ser
ENST00000456970.6:c.2812G>C	ENSP00000405002.2:n.2812G>C
ENST00000622290.4:c.*196G>C	ENSP00000483331.1:n.*196G>C
NM_001171.5:c.2987G>C	NP_001162.4:p.Cys996Ser
XM_011522479.1:c.2954G>C	XP_011520781.1:p.Cys985Ser
XM_011522480.1:c.2645G>C	XP_011520782.1:p.Cys882Ser
XM_011522481.1:c.2645G>C	XP_011520783.1:p.Cys882Ser
XR_932836.1:n.3222G>C
XR_932837.1:n.3223G>C
XR_932838.1:n.3223G>C
NM_001351800.1:c.2645G>C	NP_001338729.1:p.Cys882Ser
NR_147784.1:n.2849G>C
XM_011522479.2:c.2954G>C	XP_011520781.1:p.Cys985Ser
XM_011522481.3:c.2645G>C	XP_011520783.1:p.Cys882Ser
XM_017023212.1:c.2819G>C	XP_016878701.1:p.Cys940Ser
XM_017023214.1:c.2987G>C	XP_016878703.1:p.Cys996Ser
XM_024450261.1:c.3023G>C	XP_024306029.1:p.Cys1008Ser
XR_932836.2:n.3168G>C
XR_932837.3:n.3168G>C
XR_932838.3:n.3168G>C
NM_001171.6:c.2987G>C MANE Select	NP_001162.5:p.Cys996Ser