Canonical Allele Identifier: CA493798974

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1921280
• ClinVar RCV Id: RCV002608758
• dbSNP Id: rs1361204493
• gnomAD v2: 16-16256921-G-C
• gnomAD v3: 16-16163064-G-C
• gnomAD v4: 16-16163064-G-C
• MyVariant Identifiers: chr16:g.16256921G>C (hg19) ; chr16:g.16163064G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163064G>C , CM000678.2:g.16163064G>C	GRCh38
NC_000016.9:g.16256921G>C , CM000678.1:g.16256921G>C	GRCh37
NC_000016.8:g.16164422G>C	NCBI36
NG_007558.2:g.65408C>G
NG_007558.3:g.65554C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3435C>G	ENSP00000483331.2:p.Pro1145=
ENST00000205557.12:c.3435C>G MANE Select	ENSP00000205557.7:p.Pro1145=
ENST00000640696.1:c.321-1500C>G	ENSP00000492197.1:n.321-1500C>G
ENST00000205557.11:c.3435C>G	ENSP00000205557.7:p.Pro1145=
ENST00000456970.6:c.3132-1500C>G	ENSP00000405002.2:n.3132-1500C>G
ENST00000622290.4:c.*644C>G	ENSP00000483331.1:n.*644C>G
NM_001171.5:c.3435C>G	NP_001162.4:p.Pro1145=
XM_011522479.1:c.3402C>G	XP_011520781.1:p.Pro1134=
XM_011522480.1:c.3093C>G	XP_011520782.1:p.Pro1031=
XM_011522481.1:c.3093C>G	XP_011520783.1:p.Pro1031=
XR_932836.1:n.3670C>G
XR_932837.1:n.3543-1500C>G
XR_932838.1:n.3543-1500C>G
XR_933133.1:n.407+221G>C
XR_933134.1:n.754+221G>C
NM_001351800.1:c.3093C>G	NP_001338729.1:p.Pro1031=
NR_147784.1:n.3169-1500C>G
XM_011522479.2:c.3402C>G	XP_011520781.1:p.Pro1134=
XM_011522481.3:c.3093C>G	XP_011520783.1:p.Pro1031=
XM_017023212.1:c.3267C>G	XP_016878701.1:p.Pro1089=
XM_017023214.1:c.3307-1500C>G	XP_016878703.1:n.3307-1500C>G
XM_024450261.1:c.3471C>G	XP_024306029.1:p.Pro1157=
XR_932836.2:n.3616C>G
XR_932837.3:n.3488-1500C>G
XR_932838.3:n.3488-1500C>G
NM_001171.6:c.3435C>G MANE Select	NP_001162.5:p.Pro1145=