Canonical Allele Identifier: CA394884773

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1950724
• ClinVar RCV Id: RCV002694849
• dbSNP Id: rs1283030742
• gnomAD v2: 16-16263623-C-G
• gnomAD v4: 16-16169766-C-G
• MyVariant Identifiers: chr16:g.16263623C>G (hg19) ; chr16:g.16169766C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169766C>G , CM000678.2:g.16169766C>G	GRCh38
NC_000016.9:g.16263623C>G , CM000678.1:g.16263623C>G	GRCh37
NC_000016.8:g.16171124C>G	NCBI36
NG_007558.2:g.58706G>C
NG_007558.3:g.58852G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2875G>C	ENSP00000483331.2:p.Val959Leu
ENST00000205557.12:c.2875G>C MANE Select	ENSP00000205557.7:p.Val959Leu
ENST00000205557.11:c.2875G>C	ENSP00000205557.7:p.Val959Leu
ENST00000456970.6:c.2700G>C	ENSP00000405002.2:n.2700G>C
ENST00000622290.4:c.*84G>C	ENSP00000483331.1:n.*84G>C
NM_001171.5:c.2875G>C	NP_001162.4:p.Val959Leu
XM_011522479.1:c.2842G>C	XP_011520781.1:p.Val948Leu
XM_011522480.1:c.2533G>C	XP_011520782.1:p.Val845Leu
XM_011522481.1:c.2533G>C	XP_011520783.1:p.Val845Leu
XR_932836.1:n.3110G>C
XR_932837.1:n.3111G>C
XR_932838.1:n.3111G>C
NM_001351800.1:c.2533G>C	NP_001338729.1:p.Val845Leu
NR_147784.1:n.2737G>C
XM_011522479.2:c.2842G>C	XP_011520781.1:p.Val948Leu
XM_011522481.3:c.2533G>C	XP_011520783.1:p.Val845Leu
XM_017023212.1:c.2707G>C	XP_016878701.1:p.Val903Leu
XM_017023214.1:c.2875G>C	XP_016878703.1:p.Val959Leu
XM_024450261.1:c.2911G>C	XP_024306029.1:p.Val971Leu
XR_932836.2:n.3056G>C
XR_932837.3:n.3056G>C
XR_932838.3:n.3056G>C
NM_001171.6:c.2875G>C MANE Select	NP_001162.5:p.Val959Leu