Canonical Allele Identifier: CA394884770

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2040203
• ClinVar RCV Id: RCV002908105
• gnomAD v4: 16-16154766-C-G
• MyVariant Identifiers: chr16:g.16248623C>G (hg19) ; chr16:g.16154766C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154766C>G , CM000678.2:g.16154766C>G	GRCh38
NC_000016.9:g.16248623C>G , CM000678.1:g.16248623C>G	GRCh37
NC_000016.8:g.16156124C>G	NCBI36
NG_007558.2:g.73706G>C
NG_007558.3:g.73852G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.933G>C
ENST00000622290.5:c.*242G>C	ENSP00000483331.2:n.*242G>C
ENST00000205557.12:c.4070G>C MANE Select	ENSP00000205557.7:p.Arg1357Pro
ENST00000640696.1:c.884G>C	ENSP00000492197.1:p.Arg295Pro
ENST00000205557.11:c.4070G>C	ENSP00000205557.7:p.Arg1357Pro
ENST00000456970.6:c.3695G>C	ENSP00000405002.2:n.3695G>C
ENST00000576204.5:n.933G>C
ENST00000622290.4:c.*1279G>C	ENSP00000483331.1:n.*1279G>C
NM_001171.5:c.4070G>C	NP_001162.4:p.Arg1357Pro
XM_011522479.1:c.4037G>C	XP_011520781.1:p.Arg1346Pro
XM_011522480.1:c.3728G>C	XP_011520782.1:p.Arg1243Pro
XM_011522481.1:c.3728G>C	XP_011520783.1:p.Arg1243Pro
XR_933134.1:n.539-5015C>G
NM_001351800.1:c.3728G>C	NP_001338729.1:p.Arg1243Pro
NR_147784.1:n.3732G>C
XM_011522479.2:c.4037G>C	XP_011520781.1:p.Arg1346Pro
XM_011522481.3:c.3728G>C	XP_011520783.1:p.Arg1243Pro
XM_017023212.1:c.3902G>C	XP_016878701.1:p.Arg1301Pro
XM_024450261.1:c.4106G>C	XP_024306029.1:p.Arg1369Pro
NM_001171.6:c.4070G>C MANE Select	NP_001162.5:p.Arg1357Pro