Canonical Allele Identifier: CA394883988

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 591526
• ClinVar RCV Id: RCV000722705
• dbSNP Id: rs1567460585
• MyVariant Identifiers: chr16:g.16244589G>C (hg19) ; chr16:g.16150732G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150732G>C , CM000678.2:g.16150732G>C	GRCh38
NC_000016.9:g.16244589G>C , CM000678.1:g.16244589G>C	GRCh37
NC_000016.8:g.16152090G>C	NCBI36
NG_007558.2:g.77740C>G
NG_007558.3:g.77886C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*421C>G	ENSP00000483331.2:n.*421C>G
ENST00000205557.12:c.4249C>G MANE Select	ENSP00000205557.7:p.Leu1417Val
ENST00000640696.1:c.1063C>G	ENSP00000492197.1:p.Leu355Val
ENST00000205557.11:c.4249C>G	ENSP00000205557.7:p.Leu1417Val
ENST00000456970.6:c.3874C>G	ENSP00000405002.2:n.3874C>G
ENST00000576204.5:n.1112C>G
ENST00000622290.4:c.*1458C>G	ENSP00000483331.1:n.*1458C>G
NM_001171.5:c.4249C>G	NP_001162.4:p.Leu1417Val
XM_011522479.1:c.4216C>G	XP_011520781.1:p.Leu1406Val
XM_011522480.1:c.3907C>G	XP_011520782.1:p.Leu1303Val
XM_011522481.1:c.3907C>G	XP_011520783.1:p.Leu1303Val
XR_933134.1:n.538+6442G>C
NM_001351800.1:c.3907C>G	NP_001338729.1:p.Leu1303Val
NR_147784.1:n.3911C>G
XM_011522479.2:c.4216C>G	XP_011520781.1:p.Leu1406Val
XM_011522481.3:c.3907C>G	XP_011520783.1:p.Leu1303Val
XM_017023212.1:c.4081C>G	XP_016878701.1:p.Leu1361Val
XM_024450261.1:c.4285C>G	XP_024306029.1:p.Leu1429Val
NM_001171.6:c.4249C>G MANE Select	NP_001162.5:p.Leu1417Val