Canonical Allele Identifier: CA394884656

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1442414
• ClinVar RCV Id: RCV001960263
• dbSNP Id: rs2046997465
• gnomAD v4: 16-16169744-T-C
• MyVariant Identifiers: chr16:g.16263601T>C (hg19) ; chr16:g.16169744T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169744T>C , CM000678.2:g.16169744T>C	GRCh38
NC_000016.9:g.16263601T>C , CM000678.1:g.16263601T>C	GRCh37
NC_000016.8:g.16171102T>C	NCBI36
NG_007558.2:g.58728A>G
NG_007558.3:g.58874A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2897A>G	ENSP00000483331.2:p.Tyr966Cys
ENST00000205557.12:c.2897A>G MANE Select	ENSP00000205557.7:p.Tyr966Cys
ENST00000205557.11:c.2897A>G	ENSP00000205557.7:p.Tyr966Cys
ENST00000456970.6:c.2722A>G	ENSP00000405002.2:n.2722A>G
ENST00000622290.4:c.*106A>G	ENSP00000483331.1:n.*106A>G
NM_001171.5:c.2897A>G	NP_001162.4:p.Tyr966Cys
XM_011522479.1:c.2864A>G	XP_011520781.1:p.Tyr955Cys
XM_011522480.1:c.2555A>G	XP_011520782.1:p.Tyr852Cys
XM_011522481.1:c.2555A>G	XP_011520783.1:p.Tyr852Cys
XR_932836.1:n.3132A>G
XR_932837.1:n.3133A>G
XR_932838.1:n.3133A>G
NM_001351800.1:c.2555A>G	NP_001338729.1:p.Tyr852Cys
NR_147784.1:n.2759A>G
XM_011522479.2:c.2864A>G	XP_011520781.1:p.Tyr955Cys
XM_011522481.3:c.2555A>G	XP_011520783.1:p.Tyr852Cys
XM_017023212.1:c.2729A>G	XP_016878701.1:p.Tyr910Cys
XM_017023214.1:c.2897A>G	XP_016878703.1:p.Tyr966Cys
XM_024450261.1:c.2933A>G	XP_024306029.1:p.Tyr978Cys
XR_932836.2:n.3078A>G
XR_932837.3:n.3078A>G
XR_932838.3:n.3078A>G
NM_001171.6:c.2897A>G MANE Select	NP_001162.5:p.Tyr966Cys