Canonical Allele Identifier: CA394882839

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2103504
• ClinVar RCV Id: RCV003022184
• MyVariant Identifiers: chr16:g.16259542C>G (hg19) ; chr16:g.16165685C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165685C>G , CM000678.2:g.16165685C>G	GRCh38
NC_000016.9:g.16259542C>G , CM000678.1:g.16259542C>G	GRCh37
NC_000016.8:g.16167043C>G	NCBI36
NG_007558.2:g.62787G>C
NG_007558.3:g.62933G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3244G>C	ENSP00000483331.2:p.Val1082Leu
ENST00000205557.12:c.3244G>C MANE Select	ENSP00000205557.7:p.Val1082Leu
ENST00000640696.1:c.259G>C	ENSP00000492197.1:p.Val87Leu
ENST00000205557.11:c.3244G>C	ENSP00000205557.7:p.Val1082Leu
ENST00000456970.6:c.3069G>C	ENSP00000405002.2:n.3069G>C
ENST00000622290.4:c.*453G>C	ENSP00000483331.1:n.*453G>C
NM_001171.5:c.3244G>C	NP_001162.4:p.Val1082Leu
XM_011522479.1:c.3211G>C	XP_011520781.1:p.Val1071Leu
XM_011522480.1:c.2902G>C	XP_011520782.1:p.Val968Leu
XM_011522481.1:c.2902G>C	XP_011520783.1:p.Val968Leu
XR_932836.1:n.3479G>C
XR_932837.1:n.3480G>C
XR_932838.1:n.3480G>C
NM_001351800.1:c.2902G>C	NP_001338729.1:p.Val968Leu
NR_147784.1:n.3106G>C
XM_011522479.2:c.3211G>C	XP_011520781.1:p.Val1071Leu
XM_011522481.3:c.2902G>C	XP_011520783.1:p.Val968Leu
XM_017023212.1:c.3076G>C	XP_016878701.1:p.Val1026Leu
XM_017023214.1:c.3244G>C	XP_016878703.1:p.Val1082Leu
XM_024450261.1:c.3280G>C	XP_024306029.1:p.Val1094Leu
XR_932836.2:n.3425G>C
XR_932837.3:n.3425G>C
XR_932838.3:n.3425G>C
NM_001171.6:c.3244G>C MANE Select	NP_001162.5:p.Val1082Leu