Canonical Allele Identifier: CA394876310

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1439246
• ClinVar RCV Id: RCV001949179
• dbSNP Id: rs767119931
• MyVariant Identifiers: chr16:g.16248888C>G (hg19) ; chr16:g.16155031C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155031C>G , CM000678.2:g.16155031C>G	GRCh38
NC_000016.9:g.16248888C>G , CM000678.1:g.16248888C>G	GRCh37
NC_000016.8:g.16156389C>G	NCBI36
NG_007558.2:g.73441G>C
NG_007558.3:g.73587G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.746G>C
ENST00000622290.5:c.*55G>C	ENSP00000483331.2:n.*55G>C
ENST00000205557.12:c.3883G>C MANE Select	ENSP00000205557.7:p.Val1295Leu
ENST00000640696.1:c.697G>C	ENSP00000492197.1:p.Val233Leu
ENST00000205557.11:c.3883G>C	ENSP00000205557.7:p.Val1295Leu
ENST00000456970.6:c.3508G>C	ENSP00000405002.2:n.3508G>C
ENST00000576204.5:n.746G>C
ENST00000622290.4:c.*1092G>C	ENSP00000483331.1:n.*1092G>C
NM_001171.5:c.3883G>C	NP_001162.4:p.Val1295Leu
XM_011522479.1:c.3850G>C	XP_011520781.1:p.Val1284Leu
XM_011522480.1:c.3541G>C	XP_011520782.1:p.Val1181Leu
XM_011522481.1:c.3541G>C	XP_011520783.1:p.Val1181Leu
XR_932836.1:n.4181G>C
XR_932837.1:n.3919G>C
XR_932838.1:n.3982G>C
XR_933134.1:n.539-4750C>G
NM_001351800.1:c.3541G>C	NP_001338729.1:p.Val1181Leu
NR_147784.1:n.3545G>C
XM_011522479.2:c.3850G>C	XP_011520781.1:p.Val1284Leu
XM_011522481.3:c.3541G>C	XP_011520783.1:p.Val1181Leu
XM_017023212.1:c.3715G>C	XP_016878701.1:p.Val1239Leu
XM_024450261.1:c.3919G>C	XP_024306029.1:p.Val1307Leu
XR_932836.2:n.4127G>C
XR_932837.3:n.3864G>C
XR_932838.3:n.3927G>C
NM_001171.6:c.3883G>C MANE Select	NP_001162.5:p.Val1295Leu