Canonical Allele Identifier: CA278628710

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433287
• ClinVar RCV Id: RCV000499364 ; RCV001726197
• dbSNP Id: rs72657701
• gnomAD v2: 16-16253351-C-G
• gnomAD v4: 16-16159494-C-G
• MyVariant Identifiers: chr16:g.16253351C>G (hg19) ; chr16:g.16159494C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159494C>G , CM000678.2:g.16159494C>G	GRCh38
NC_000016.9:g.16253351C>G , CM000678.1:g.16253351C>G	GRCh37
NC_000016.8:g.16160852C>G	NCBI36
NG_007558.2:g.68978G>C
NG_007558.3:g.69124G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3723G>C	ENSP00000483331.2:p.Trp1241Cys
ENST00000205557.12:c.3723G>C MANE Select	ENSP00000205557.7:p.Trp1241Cys
ENST00000640696.1:c.537G>C	ENSP00000492197.1:p.Trp179Cys
ENST00000205557.11:c.3723G>C	ENSP00000205557.7:p.Trp1241Cys
ENST00000456970.6:c.3348G>C	ENSP00000405002.2:n.3348G>C
ENST00000622290.4:c.*932G>C	ENSP00000483331.1:n.*932G>C
NM_001171.5:c.3723G>C	NP_001162.4:p.Trp1241Cys
XM_011522479.1:c.3690G>C	XP_011520781.1:p.Trp1230Cys
XM_011522480.1:c.3381G>C	XP_011520782.1:p.Trp1127Cys
XM_011522481.1:c.3381G>C	XP_011520783.1:p.Trp1127Cys
XR_932836.1:n.3958G>C
XR_932837.1:n.3759G>C
XR_932838.1:n.3759G>C
XR_933134.1:n.539-287C>G
NM_001351800.1:c.3381G>C	NP_001338729.1:p.Trp1127Cys
NR_147784.1:n.3385G>C
XM_011522479.2:c.3690G>C	XP_011520781.1:p.Trp1230Cys
XM_011522481.3:c.3381G>C	XP_011520783.1:p.Trp1127Cys
XM_017023212.1:c.3555G>C	XP_016878701.1:p.Trp1185Cys
XM_024450261.1:c.3759G>C	XP_024306029.1:p.Trp1253Cys
XR_932836.2:n.3904G>C
XR_932837.3:n.3704G>C
XR_932838.3:n.3704G>C
NM_001171.6:c.3723G>C MANE Select	NP_001162.5:p.Trp1241Cys